Canonical Allele Identifier: CA383382631
Gene: CACNA1C HGNC NCBI
CACNA1C-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.2795378C>G (hg19) chr12:g.2686212C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.2686212C>G , CM000674.2:g.2686212C>G GRCh38
NC_000012.11:g.2795378C>G , CM000674.1:g.2795378C>G GRCh37
NC_000012.10:g.2665639C>G NCBI36
NG_008801.2:g.720427C>G , LRG_334:g.720427C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000335762.10:c.5802C>G (CACNA1C) ENSP00000336982.5:p.Asp1934Glu
ENST00000399617.6:c.5832C>G (CACNA1C) ENSP00000382526.1:p.Asp1944Glu
ENST00000399634.6:c.5907C>G (CACNA1C) ENSP00000382542.2:p.Asp1969Glu
ENST00000406454.8:c.5940C>G (CACNA1C) ENSP00000385896.3:p.Asp1980Glu
ENST00000682336.1:c.5769C>G (CACNA1C) ENSP00000507898.1:p.Asp1923Glu
ENST00000682462.1:c.5817C>G (CACNA1C) ENSP00000507105.1:p.Asp1939Glu
ENST00000682544.1:c.6066C>G (CACNA1C) ENSP00000507184.1:p.Asp2022Glu
ENST00000682686.1:c.5694C>G (CACNA1C) ENSP00000507309.1:p.Asp1898Glu
ENST00000682835.1:c.5727C>G (CACNA1C) ENSP00000507282.1:p.Asp1909Glu
ENST00000683482.1:c.5718C>G (CACNA1C) ENSP00000507169.1:p.Asp1906Glu
ENST00000683781.1:c.5817C>G (CACNA1C) ENSP00000507434.1:p.Asp1939Glu
ENST00000683824.1:c.5892C>G (CACNA1C) ENSP00000507867.1:p.Asp1964Glu
ENST00000683840.1:c.5817C>G (CACNA1C) ENSP00000507612.1:p.Asp1939Glu
ENST00000683956.1:c.5817C>G (CACNA1C) ENSP00000506882.1:p.Asp1939Glu
ENST00000684233.1:n.852C>G (CACNA1C)
ENST00000684467.1:n.2230C>G (CACNA1C)
ENST00000684752.1:n.857C>G (CACNA1C)
ENST00000327702.12:c.5832C>G (CACNA1C) ENSP00000329877.7:p.Asp1944Glu
ENST00000347598.9:c.5871C>G (CACNA1C) ENSP00000266376.6:p.Asp1957Glu
ENST00000399603.6:c.5727C>G (CACNA1C) MANE Plus Clinical ENSP00000382512.1:p.Asp1909Glu
ENST00000399641.6:c.5727C>G (CACNA1C) ENSP00000382549.1:p.Asp1909Glu
ENST00000399655.6:c.5727C>G (CACNA1C) MANE Select ENSP00000382563.1:p.Asp1909Glu
ENST00000327702.11:c.5832C>G (CACNA1C) ENSP00000329877.7:p.Asp1944Glu
ENST00000335762.9:c.5802C>G (CACNA1C) ENSP00000336982.5:p.Asp1934Glu
ENST00000344100.7:c.5850C>G (CACNA1C) ENSP00000341092.3:p.Asp1950Glu
ENST00000347598.8:c.5871C>G (CACNA1C) ENSP00000266376.6:p.Asp1957Glu
ENST00000399591.5:c.5751C>G (CACNA1C) ENSP00000382500.1:p.Asp1917Glu
ENST00000399595.5:c.5751C>G (CACNA1C) ENSP00000382504.1:p.Asp1917Glu
ENST00000399597.5:c.5727C>G (CACNA1C) ENSP00000382506.1:p.Asp1909Glu
ENST00000399601.5:c.5727C>G (CACNA1C) ENSP00000382510.1:p.Asp1909Glu
ENST00000399603.5:c.5727C>G (CACNA1C) ENSP00000382512.1:p.Asp1909Glu
ENST00000399606.5:c.5787C>G (CACNA1C) ENSP00000382515.1:p.Asp1929Glu
ENST00000399617.5:c.5832C>G (CACNA1C) ENSP00000382526.1:p.Asp1944Glu
ENST00000399621.5:c.5784C>G (CACNA1C) ENSP00000382530.1:p.Asp1928Glu
ENST00000399629.5:c.5778C>G (CACNA1C) ENSP00000382537.1:p.Asp1926Glu
ENST00000399634.5:c.5940C>G (CACNA1C) ENSP00000382542.1:p.Asp1980Glu
ENST00000399637.5:c.5784C>G (CACNA1C) ENSP00000382546.1:p.Asp1928Glu
ENST00000399638.5:c.5811C>G (CACNA1C) ENSP00000382547.1:p.Asp1937Glu
ENST00000399641.5:c.5727C>G (CACNA1C) ENSP00000382549.1:p.Asp1909Glu
ENST00000399644.5:c.5727C>G (CACNA1C) ENSP00000382552.1:p.Asp1909Glu
ENST00000399649.5:c.5745C>G (CACNA1C) ENSP00000382557.1:p.Asp1915Glu
ENST00000399655.5:c.5727C>G (CACNA1C) ENSP00000382563.1:p.Asp1909Glu
ENST00000402845.7:c.5784C>G (CACNA1C) ENSP00000385724.3:p.Asp1928Glu
ENST00000406454.7:c.5940C>G (CACNA1C) ENSP00000385896.3:p.Asp1980Glu
ENST00000613940.4:c.5355C>G (CACNA1C) ENSP00000483335.1:p.Asp1785Glu
ENST00000615303.4:c.5499C>G (CACNA1C) ENSP00000480922.1:p.Asp1833Glu
ENST00000615400.4:c.5394C>G (CACNA1C) ENSP00000480292.1:p.Asp1798Glu
ENST00000616390.1:c.1800C>G (CACNA1C) ENSP00000482910.1:p.Asp600Glu
ENST00000620878.4:c.5430C>G (CACNA1C) ENSP00000479029.1:p.Asp1810Glu
ENST00000621625.4:c.5355C>G (CACNA1C) ENSP00000484796.1:p.Asp1785Glu
NM_000719.6:c.5727C>G , LRG_334t1:c.5727C>G (CACNA1C) NP_000710.5:p.Asp1909Glu
NM_001129827.1:c.5871C>G , LRG_334t2:c.5871C>G (CACNA1C) NP_001123299.1:p.Asp1957Glu
NM_001129829.1:c.5850C>G (CACNA1C) NP_001123301.1:p.Asp1950Glu
NM_001129830.2:c.5832C>G (CACNA1C) NP_001123302.2:p.Asp1944Glu
NM_001129831.1:c.5811C>G (CACNA1C) NP_001123303.1:p.Asp1937Glu
NM_001129832.1:c.5787C>G (CACNA1C) NP_001123304.1:p.Asp1929Glu
NM_001129833.1:c.5784C>G (CACNA1C) NP_001123305.1:p.Asp1928Glu
NM_001129834.1:c.5784C>G (CACNA1C) NP_001123306.1:p.Asp1928Glu
NM_001129835.1:c.5784C>G (CACNA1C) NP_001123307.1:p.Asp1928Glu
NM_001129836.1:c.5778C>G (CACNA1C) NP_001123308.1:p.Asp1926Glu
NM_001129837.1:c.5751C>G (CACNA1C) NP_001123309.1:p.Asp1917Glu
NM_001129838.1:c.5751C>G (CACNA1C) NP_001123310.1:p.Asp1917Glu
NM_001129839.1:c.5745C>G (CACNA1C) NP_001123311.1:p.Asp1915Glu
NM_001129840.1:c.5727C>G , LRG_334t4:c.5727C>G (CACNA1C) NP_001123312.1:p.Asp1909Glu
NM_001129841.1:c.5727C>G (CACNA1C) NP_001123313.1:p.Asp1909Glu
NM_001129842.1:c.5727C>G (CACNA1C) NP_001123314.1:p.Asp1909Glu
NM_001129843.1:c.5727C>G (CACNA1C) NP_001123315.1:p.Asp1909Glu
NM_001129844.1:c.5718C>G (CACNA1C) NP_001123316.1:p.Asp1906Glu
NM_001129846.1:c.5694C>G (CACNA1C) NP_001123318.1:p.Asp1898Glu
NM_001167623.1:c.5727C>G (CACNA1C) NP_001161095.1:p.Asp1909Glu
NM_001167624.2:c.5832C>G (CACNA1C) NP_001161096.2:p.Asp1944Glu
NM_001167625.1:c.5907C>G (CACNA1C) NP_001161097.1:p.Asp1969Glu
NM_199460.3:c.5976C>G (CACNA1C) NP_955630.3:p.Asp1992Glu
NR_045725.1:n.333+3928G>C (CACNA1C-AS1)
XM_006719017.1:c.5817C>G (CACNA1C) XP_006719080.1:p.Asp1939Glu
XM_011521017.1:c.5346C>G (CACNA1C) XP_011519319.1:p.Asp1782Glu
XM_011521018.1:c.4791C>G (CACNA1C) XP_011519320.1:p.Asp1597Glu
XM_011521019.1:c.2901C>G (CACNA1C) XP_011519321.1:p.Asp967Glu
XM_011521020.1:c.5892C>G (CACNA1C) XP_011519322.1:p.Asp1964Glu
XM_011521021.1:c.6045C>G (CACNA1C) XP_011519323.1:p.Asp2015Glu
XM_011521022.1:c.6045C>G (CACNA1C) XP_011519324.1:p.Asp2015Glu
XM_011521023.1:c.5802C>G (CACNA1C) XP_011519325.1:p.Asp1934Glu
XM_006719017.2:c.5817C>G (CACNA1C) XP_006719080.1:p.Asp1939Glu
XM_011521020.2:c.5892C>G (CACNA1C) XP_011519322.1:p.Asp1964Glu
XM_011521023.3:c.5802C>G (CACNA1C) XP_011519325.1:p.Asp1934Glu
XM_017019926.2:c.6549C>G (CACNA1C) XP_016875415.1:p.Asp2183Glu
XM_017019927.2:c.6444C>G (CACNA1C) XP_016875416.1:p.Asp2148Glu
XM_017019928.2:c.6231C>G (CACNA1C) XP_016875417.1:p.Asp2077Glu
XM_017019929.2:c.6174C>G (CACNA1C) XP_016875418.1:p.Asp2058Glu
XM_017019930.2:c.6174C>G (CACNA1C) XP_016875419.1:p.Asp2058Glu
XM_017019931.2:c.6090C>G (CACNA1C) XP_016875420.1:p.Asp2030Glu
XM_017019932.2:c.6075C>G (CACNA1C) XP_016875421.1:p.Asp2025Glu
XM_017019933.2:c.5979C>G (CACNA1C) XP_016875422.1:p.Asp1993Glu
XM_017019934.2:c.5970C>G (CACNA1C) XP_016875423.1:p.Asp1990Glu
XM_017019935.2:c.5970C>G (CACNA1C) XP_016875424.1:p.Asp1990Glu
XM_017019936.2:c.5952C>G (CACNA1C) XP_016875425.1:p.Asp1984Glu
XM_017019937.2:c.5952C>G (CACNA1C) XP_016875426.1:p.Asp1984Glu
XM_017019938.2:c.5952C>G (CACNA1C) XP_016875427.1:p.Asp1984Glu
XM_017019939.2:c.5946C>G (CACNA1C) XP_016875428.1:p.Asp1982Glu
XM_017019940.2:c.5919C>G (CACNA1C) XP_016875429.1:p.Asp1973Glu
XM_017019941.2:c.5913C>G (CACNA1C) XP_016875430.1:p.Asp1971Glu
XM_017019942.2:c.5895C>G (CACNA1C) XP_016875431.1:p.Asp1965Glu
XM_017019943.2:c.5895C>G (CACNA1C) XP_016875432.1:p.Asp1965Glu
XM_017019944.2:c.5895C>G (CACNA1C) XP_016875433.1:p.Asp1965Glu
XM_017019945.2:c.5895C>G (CACNA1C) XP_016875434.1:p.Asp1965Glu
XM_017019946.2:c.5895C>G (CACNA1C) XP_016875435.1:p.Asp1965Glu
XM_017019947.2:c.5895C>G (CACNA1C) XP_016875436.1:p.Asp1965Glu
XM_017019948.2:c.5895C>G (CACNA1C) XP_016875437.1:p.Asp1965Glu
XM_017019949.2:c.5895C>G (CACNA1C) XP_016875438.1:p.Asp1965Glu
XM_017019950.2:c.5889C>G (CACNA1C) XP_016875439.1:p.Asp1963Glu
XM_017019951.2:c.5886C>G (CACNA1C) XP_016875440.1:p.Asp1962Glu
XM_017019952.2:c.5862C>G (CACNA1C) XP_016875441.1:p.Asp1954Glu
XM_017019953.1:c.5817C>G (CACNA1C) XP_016875442.1:p.Asp1939Glu
XM_017019954.1:c.5817C>G (CACNA1C) XP_016875443.1:p.Asp1939Glu
XM_017019955.2:c.5970C>G (CACNA1C) XP_016875444.1:p.Asp1990Glu
NM_000719.7:c.5727C>G (CACNA1C) MANE Select NP_000710.5:p.Asp1909Glu
NM_001129827.2:c.5871C>G (CACNA1C) NP_001123299.1:p.Asp1957Glu
NM_001129830.3:c.5832C>G (CACNA1C) NP_001123302.2:p.Asp1944Glu
NM_001129840.2:c.5727C>G (CACNA1C) NP_001123312.1:p.Asp1909Glu
NM_001167623.2:c.5727C>G (CACNA1C) MANE Plus Clinical NP_001161095.1:p.Asp1909Glu
NM_001129829.2:c.5850C>G (CACNA1C) NP_001123301.1:p.Asp1950Glu
NM_001129831.2:c.5811C>G (CACNA1C) NP_001123303.1:p.Asp1937Glu
NM_001129832.2:c.5787C>G (CACNA1C) NP_001123304.1:p.Asp1929Glu
NM_001129833.2:c.5784C>G (CACNA1C) NP_001123305.1:p.Asp1928Glu
NM_001129834.2:c.5784C>G (CACNA1C) NP_001123306.1:p.Asp1928Glu
NM_001129835.2:c.5784C>G (CACNA1C) NP_001123307.1:p.Asp1928Glu
NM_001129836.2:c.5778C>G (CACNA1C) NP_001123308.1:p.Asp1926Glu
NM_001129837.2:c.5751C>G (CACNA1C) NP_001123309.1:p.Asp1917Glu
NM_001129838.2:c.5751C>G (CACNA1C) NP_001123310.1:p.Asp1917Glu
NM_001129839.2:c.5745C>G (CACNA1C) NP_001123311.1:p.Asp1915Glu
NM_001129841.2:c.5727C>G (CACNA1C) NP_001123313.1:p.Asp1909Glu
NM_001129842.2:c.5727C>G (CACNA1C) NP_001123314.1:p.Asp1909Glu
NM_001129843.2:c.5727C>G (CACNA1C) NP_001123315.1:p.Asp1909Glu
NM_001129844.2:c.5718C>G (CACNA1C) NP_001123316.1:p.Asp1906Glu
NM_001129846.2:c.5694C>G (CACNA1C) NP_001123318.1:p.Asp1898Glu
NM_001167624.3:c.5832C>G (CACNA1C) NP_001161096.2:p.Asp1944Glu
NM_001167625.2:c.5907C>G (CACNA1C) NP_001161097.1:p.Asp1969Glu
NM_199460.4:c.5976C>G (CACNA1C) NP_955630.3:p.Asp1992Glu
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