SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
ClinVar Variation Id:
1973926
ClinVar RCV Id:
RCV002741076
dbSNP Id:
rs758166168
ExAC:
12:2795368 G / T
gnomAD v2:
12-2795368-G-T
gnomAD v4:
12-2686202-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.2686202G>T , CM000674.2:g.2686202G>T | GRCh38 |
| NC_000012.11:g.2795368G>T , CM000674.1:g.2795368G>T | GRCh37 |
| NC_000012.10:g.2665629G>T | NCBI36 |
| NG_008801.2:g.720417G>T , LRG_334:g.720417G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335762.10:c.5792G>T (CACNA1C) | ENSP00000336982.5:p.Arg1931Leu | |
| ENST00000399617.6:c.5822G>T (CACNA1C) | ENSP00000382526.1:p.Arg1941Leu | |
| ENST00000399634.6:c.5897G>T (CACNA1C) | ENSP00000382542.2:p.Arg1966Leu | |
| ENST00000406454.8:c.5930G>T (CACNA1C) | ENSP00000385896.3:p.Arg1977Leu | |
| ENST00000682336.1:c.5759G>T (CACNA1C) | ENSP00000507898.1:p.Arg1920Leu | |
| ENST00000682462.1:c.5807G>T (CACNA1C) | ENSP00000507105.1:p.Arg1936Leu | |
| ENST00000682544.1:c.6056G>T (CACNA1C) | ENSP00000507184.1:p.Arg2019Leu | |
| ENST00000682686.1:c.5684G>T (CACNA1C) | ENSP00000507309.1:p.Arg1895Leu | |
| ENST00000682835.1:c.5717G>T (CACNA1C) | ENSP00000507282.1:p.Arg1906Leu | |
| ENST00000683482.1:c.5708G>T (CACNA1C) | ENSP00000507169.1:p.Arg1903Leu | |
| ENST00000683781.1:c.5807G>T (CACNA1C) | ENSP00000507434.1:p.Arg1936Leu | |
| ENST00000683824.1:c.5882G>T (CACNA1C) | ENSP00000507867.1:p.Arg1961Leu | |
| ENST00000683840.1:c.5807G>T (CACNA1C) | ENSP00000507612.1:p.Arg1936Leu | |
| ENST00000683956.1:c.5807G>T (CACNA1C) | ENSP00000506882.1:p.Arg1936Leu | |
| ENST00000684233.1:n.842G>T (CACNA1C) | ||
| ENST00000684467.1:n.2220G>T (CACNA1C) | ||
| ENST00000684752.1:n.847G>T (CACNA1C) | ||
| ENST00000327702.12:c.5822G>T (CACNA1C) | ENSP00000329877.7:p.Arg1941Leu | |
| ENST00000347598.9:c.5861G>T (CACNA1C) | ENSP00000266376.6:p.Arg1954Leu | |
| ENST00000399603.6:c.5717G>T (CACNA1C) MANE Plus Clinical | ENSP00000382512.1:p.Arg1906Leu | |
| ENST00000399641.6:c.5717G>T (CACNA1C) | ENSP00000382549.1:p.Arg1906Leu | |
| ENST00000399655.6:c.5717G>T (CACNA1C) MANE Select | ENSP00000382563.1:p.Arg1906Leu | |
| ENST00000327702.11:c.5822G>T (CACNA1C) | ENSP00000329877.7:p.Arg1941Leu | |
| ENST00000335762.9:c.5792G>T (CACNA1C) | ENSP00000336982.5:p.Arg1931Leu | |
| ENST00000344100.7:c.5840G>T (CACNA1C) | ENSP00000341092.3:p.Arg1947Leu | |
| ENST00000347598.8:c.5861G>T (CACNA1C) | ENSP00000266376.6:p.Arg1954Leu | |
| ENST00000399591.5:c.5741G>T (CACNA1C) | ENSP00000382500.1:p.Arg1914Leu | |
| ENST00000399595.5:c.5741G>T (CACNA1C) | ENSP00000382504.1:p.Arg1914Leu | |
| ENST00000399597.5:c.5717G>T (CACNA1C) | ENSP00000382506.1:p.Arg1906Leu | |
| ENST00000399601.5:c.5717G>T (CACNA1C) | ENSP00000382510.1:p.Arg1906Leu | |
| ENST00000399603.5:c.5717G>T (CACNA1C) | ENSP00000382512.1:p.Arg1906Leu | |
| ENST00000399606.5:c.5777G>T (CACNA1C) | ENSP00000382515.1:p.Arg1926Leu | |
| ENST00000399617.5:c.5822G>T (CACNA1C) | ENSP00000382526.1:p.Arg1941Leu | |
| ENST00000399621.5:c.5774G>T (CACNA1C) | ENSP00000382530.1:p.Arg1925Leu | |
| ENST00000399629.5:c.5768G>T (CACNA1C) | ENSP00000382537.1:p.Arg1923Leu | |
| ENST00000399634.5:c.5930G>T (CACNA1C) | ENSP00000382542.1:p.Arg1977Leu | |
| ENST00000399637.5:c.5774G>T (CACNA1C) | ENSP00000382546.1:p.Arg1925Leu | |
| ENST00000399638.5:c.5801G>T (CACNA1C) | ENSP00000382547.1:p.Arg1934Leu | |
| ENST00000399641.5:c.5717G>T (CACNA1C) | ENSP00000382549.1:p.Arg1906Leu | |
| ENST00000399644.5:c.5717G>T (CACNA1C) | ENSP00000382552.1:p.Arg1906Leu | |
| ENST00000399649.5:c.5735G>T (CACNA1C) | ENSP00000382557.1:p.Arg1912Leu | |
| ENST00000399655.5:c.5717G>T (CACNA1C) | ENSP00000382563.1:p.Arg1906Leu | |
| ENST00000402845.7:c.5774G>T (CACNA1C) | ENSP00000385724.3:p.Arg1925Leu | |
| ENST00000406454.7:c.5930G>T (CACNA1C) | ENSP00000385896.3:p.Arg1977Leu | |
| ENST00000613940.4:c.5345G>T (CACNA1C) | ENSP00000483335.1:p.Arg1782Leu | |
| ENST00000615303.4:c.5489G>T (CACNA1C) | ENSP00000480922.1:p.Arg1830Leu | |
| ENST00000615400.4:c.5384G>T (CACNA1C) | ENSP00000480292.1:p.Arg1795Leu | |
| ENST00000616390.1:c.1790G>T (CACNA1C) | ENSP00000482910.1:p.Arg597Leu | |
| ENST00000620878.4:c.5420G>T (CACNA1C) | ENSP00000479029.1:p.Arg1807Leu | |
| ENST00000621625.4:c.5345G>T (CACNA1C) | ENSP00000484796.1:p.Arg1782Leu | |
| NM_000719.6:c.5717G>T , LRG_334t1:c.5717G>T (CACNA1C) | NP_000710.5:p.Arg1906Leu | |
| NM_001129827.1:c.5861G>T , LRG_334t2:c.5861G>T (CACNA1C) | NP_001123299.1:p.Arg1954Leu | |
| NM_001129829.1:c.5840G>T (CACNA1C) | NP_001123301.1:p.Arg1947Leu | |
| NM_001129830.2:c.5822G>T (CACNA1C) | NP_001123302.2:p.Arg1941Leu | |
| NM_001129831.1:c.5801G>T (CACNA1C) | NP_001123303.1:p.Arg1934Leu | |
| NM_001129832.1:c.5777G>T (CACNA1C) | NP_001123304.1:p.Arg1926Leu | |
| NM_001129833.1:c.5774G>T (CACNA1C) | NP_001123305.1:p.Arg1925Leu | |
| NM_001129834.1:c.5774G>T (CACNA1C) | NP_001123306.1:p.Arg1925Leu | |
| NM_001129835.1:c.5774G>T (CACNA1C) | NP_001123307.1:p.Arg1925Leu | |
| NM_001129836.1:c.5768G>T (CACNA1C) | NP_001123308.1:p.Arg1923Leu | |
| NM_001129837.1:c.5741G>T (CACNA1C) | NP_001123309.1:p.Arg1914Leu | |
| NM_001129838.1:c.5741G>T (CACNA1C) | NP_001123310.1:p.Arg1914Leu | |
| NM_001129839.1:c.5735G>T (CACNA1C) | NP_001123311.1:p.Arg1912Leu | |
| NM_001129840.1:c.5717G>T , LRG_334t4:c.5717G>T (CACNA1C) | NP_001123312.1:p.Arg1906Leu | |
| NM_001129841.1:c.5717G>T (CACNA1C) | NP_001123313.1:p.Arg1906Leu | |
| NM_001129842.1:c.5717G>T (CACNA1C) | NP_001123314.1:p.Arg1906Leu | |
| NM_001129843.1:c.5717G>T (CACNA1C) | NP_001123315.1:p.Arg1906Leu | |
| NM_001129844.1:c.5708G>T (CACNA1C) | NP_001123316.1:p.Arg1903Leu | |
| NM_001129846.1:c.5684G>T (CACNA1C) | NP_001123318.1:p.Arg1895Leu | |
| NM_001167623.1:c.5717G>T (CACNA1C) | NP_001161095.1:p.Arg1906Leu | |
| NM_001167624.2:c.5822G>T (CACNA1C) | NP_001161096.2:p.Arg1941Leu | |
| NM_001167625.1:c.5897G>T (CACNA1C) | NP_001161097.1:p.Arg1966Leu | |
| NM_199460.3:c.5966G>T (CACNA1C) | NP_955630.3:p.Arg1989Leu | |
| NR_045725.1:n.333+3938C>A (CACNA1C-AS1) | ||
| XM_006719017.1:c.5807G>T (CACNA1C) | XP_006719080.1:p.Arg1936Leu | |
| XM_011521017.1:c.5336G>T (CACNA1C) | XP_011519319.1:p.Arg1779Leu | |
| XM_011521018.1:c.4781G>T (CACNA1C) | XP_011519320.1:p.Arg1594Leu | |
| XM_011521019.1:c.2891G>T (CACNA1C) | XP_011519321.1:p.Arg964Leu | |
| XM_011521020.1:c.5882G>T (CACNA1C) | XP_011519322.1:p.Arg1961Leu | |
| XM_011521021.1:c.6035G>T (CACNA1C) | XP_011519323.1:p.Arg2012Leu | |
| XM_011521022.1:c.6035G>T (CACNA1C) | XP_011519324.1:p.Arg2012Leu | |
| XM_011521023.1:c.5792G>T (CACNA1C) | XP_011519325.1:p.Arg1931Leu | |
| XM_006719017.2:c.5807G>T (CACNA1C) | XP_006719080.1:p.Arg1936Leu | |
| XM_011521020.2:c.5882G>T (CACNA1C) | XP_011519322.1:p.Arg1961Leu | |
| XM_011521023.3:c.5792G>T (CACNA1C) | XP_011519325.1:p.Arg1931Leu | |
| XM_017019926.2:c.6539G>T (CACNA1C) | XP_016875415.1:p.Arg2180Leu | |
| XM_017019927.2:c.6434G>T (CACNA1C) | XP_016875416.1:p.Arg2145Leu | |
| XM_017019928.2:c.6221G>T (CACNA1C) | XP_016875417.1:p.Arg2074Leu | |
| XM_017019929.2:c.6164G>T (CACNA1C) | XP_016875418.1:p.Arg2055Leu | |
| XM_017019930.2:c.6164G>T (CACNA1C) | XP_016875419.1:p.Arg2055Leu | |
| XM_017019931.2:c.6080G>T (CACNA1C) | XP_016875420.1:p.Arg2027Leu | |
| XM_017019932.2:c.6065G>T (CACNA1C) | XP_016875421.1:p.Arg2022Leu | |
| XM_017019933.2:c.5969G>T (CACNA1C) | XP_016875422.1:p.Arg1990Leu | |
| XM_017019934.2:c.5960G>T (CACNA1C) | XP_016875423.1:p.Arg1987Leu | |
| XM_017019935.2:c.5960G>T (CACNA1C) | XP_016875424.1:p.Arg1987Leu | |
| XM_017019936.2:c.5942G>T (CACNA1C) | XP_016875425.1:p.Arg1981Leu | |
| XM_017019937.2:c.5942G>T (CACNA1C) | XP_016875426.1:p.Arg1981Leu | |
| XM_017019938.2:c.5942G>T (CACNA1C) | XP_016875427.1:p.Arg1981Leu | |
| XM_017019939.2:c.5936G>T (CACNA1C) | XP_016875428.1:p.Arg1979Leu | |
| XM_017019940.2:c.5909G>T (CACNA1C) | XP_016875429.1:p.Arg1970Leu | |
| XM_017019941.2:c.5903G>T (CACNA1C) | XP_016875430.1:p.Arg1968Leu | |
| XM_017019942.2:c.5885G>T (CACNA1C) | XP_016875431.1:p.Arg1962Leu | |
| XM_017019943.2:c.5885G>T (CACNA1C) | XP_016875432.1:p.Arg1962Leu | |
| XM_017019944.2:c.5885G>T (CACNA1C) | XP_016875433.1:p.Arg1962Leu | |
| XM_017019945.2:c.5885G>T (CACNA1C) | XP_016875434.1:p.Arg1962Leu | |
| XM_017019946.2:c.5885G>T (CACNA1C) | XP_016875435.1:p.Arg1962Leu | |
| XM_017019947.2:c.5885G>T (CACNA1C) | XP_016875436.1:p.Arg1962Leu | |
| XM_017019948.2:c.5885G>T (CACNA1C) | XP_016875437.1:p.Arg1962Leu | |
| XM_017019949.2:c.5885G>T (CACNA1C) | XP_016875438.1:p.Arg1962Leu | |
| XM_017019950.2:c.5879G>T (CACNA1C) | XP_016875439.1:p.Arg1960Leu | |
| XM_017019951.2:c.5876G>T (CACNA1C) | XP_016875440.1:p.Arg1959Leu | |
| XM_017019952.2:c.5852G>T (CACNA1C) | XP_016875441.1:p.Arg1951Leu | |
| XM_017019953.1:c.5807G>T (CACNA1C) | XP_016875442.1:p.Arg1936Leu | |
| XM_017019954.1:c.5807G>T (CACNA1C) | XP_016875443.1:p.Arg1936Leu | |
| XM_017019955.2:c.5960G>T (CACNA1C) | XP_016875444.1:p.Arg1987Leu | |
| NM_000719.7:c.5717G>T (CACNA1C) MANE Select | NP_000710.5:p.Arg1906Leu | |
| NM_001129827.2:c.5861G>T (CACNA1C) | NP_001123299.1:p.Arg1954Leu | |
| NM_001129830.3:c.5822G>T (CACNA1C) | NP_001123302.2:p.Arg1941Leu | |
| NM_001129840.2:c.5717G>T (CACNA1C) | NP_001123312.1:p.Arg1906Leu | |
| NM_001167623.2:c.5717G>T (CACNA1C) MANE Plus Clinical | NP_001161095.1:p.Arg1906Leu | |
| NM_001129829.2:c.5840G>T (CACNA1C) | NP_001123301.1:p.Arg1947Leu | |
| NM_001129831.2:c.5801G>T (CACNA1C) | NP_001123303.1:p.Arg1934Leu | |
| NM_001129832.2:c.5777G>T (CACNA1C) | NP_001123304.1:p.Arg1926Leu | |
| NM_001129833.2:c.5774G>T (CACNA1C) | NP_001123305.1:p.Arg1925Leu | |
| NM_001129834.2:c.5774G>T (CACNA1C) | NP_001123306.1:p.Arg1925Leu | |
| NM_001129835.2:c.5774G>T (CACNA1C) | NP_001123307.1:p.Arg1925Leu | |
| NM_001129836.2:c.5768G>T (CACNA1C) | NP_001123308.1:p.Arg1923Leu | |
| NM_001129837.2:c.5741G>T (CACNA1C) | NP_001123309.1:p.Arg1914Leu | |
| NM_001129838.2:c.5741G>T (CACNA1C) | NP_001123310.1:p.Arg1914Leu | |
| NM_001129839.2:c.5735G>T (CACNA1C) | NP_001123311.1:p.Arg1912Leu | |
| NM_001129841.2:c.5717G>T (CACNA1C) | NP_001123313.1:p.Arg1906Leu | |
| NM_001129842.2:c.5717G>T (CACNA1C) | NP_001123314.1:p.Arg1906Leu | |
| NM_001129843.2:c.5717G>T (CACNA1C) | NP_001123315.1:p.Arg1906Leu | |
| NM_001129844.2:c.5708G>T (CACNA1C) | NP_001123316.1:p.Arg1903Leu | |
| NM_001129846.2:c.5684G>T (CACNA1C) | NP_001123318.1:p.Arg1895Leu | |
| NM_001167624.3:c.5822G>T (CACNA1C) | NP_001161096.2:p.Arg1941Leu | |
| NM_001167625.2:c.5897G>T (CACNA1C) | NP_001161097.1:p.Arg1966Leu | |
| NM_199460.4:c.5966G>T (CACNA1C) | NP_955630.3:p.Arg1989Leu |