OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
Linked Data
ClinVar Variation Id:
190629
dbSNP Id:
rs786205742
gnomAD v2:
12-2797878-T-C
gnomAD v3:
12-2688712-T-C
gnomAD v4:
12-2688712-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.2688712T>C , CM000674.2:g.2688712T>C | GRCh38 |
| NC_000012.11:g.2797878T>C , CM000674.1:g.2797878T>C | GRCh37 |
| NC_000012.10:g.2668139T>C | NCBI36 |
| NG_008801.2:g.722927T>C , LRG_334:g.722927T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335762.10:c.6125T>C (CACNA1C) | ENSP00000336982.5:p.Met2042Thr | |
| ENST00000399617.6:c.6155T>C (CACNA1C) | ENSP00000382526.1:p.Met2052Thr | |
| ENST00000399634.6:c.6230T>C (CACNA1C) | ENSP00000382542.2:p.Met2077Thr | |
| ENST00000406454.8:c.6263T>C (CACNA1C) | ENSP00000385896.3:p.Met2088Thr | |
| ENST00000682336.1:c.6092T>C (CACNA1C) | ENSP00000507898.1:p.Met2031Thr | |
| ENST00000682462.1:c.6140T>C (CACNA1C) | ENSP00000507105.1:p.Met2047Thr | |
| ENST00000682544.1:c.6389T>C (CACNA1C) | ENSP00000507184.1:p.Met2130Thr | |
| ENST00000682686.1:c.6017T>C (CACNA1C) | ENSP00000507309.1:p.Met2006Thr | |
| ENST00000682835.1:c.6050T>C (CACNA1C) | ENSP00000507282.1:p.Met2017Thr | |
| ENST00000683482.1:c.6041T>C (CACNA1C) | ENSP00000507169.1:p.Met2014Thr | |
| ENST00000683781.1:c.6140T>C (CACNA1C) | ENSP00000507434.1:p.Met2047Thr | |
| ENST00000683824.1:c.6215T>C (CACNA1C) | ENSP00000507867.1:p.Met2072Thr | |
| ENST00000683840.1:c.6140T>C (CACNA1C) | ENSP00000507612.1:p.Met2047Thr | |
| ENST00000683956.1:c.6140T>C (CACNA1C) | ENSP00000506882.1:p.Met2047Thr | |
| ENST00000684467.1:n.2553T>C (CACNA1C) | ||
| ENST00000327702.12:c.6155T>C (CACNA1C) | ENSP00000329877.7:p.Met2052Thr | |
| ENST00000347598.9:c.6194T>C (CACNA1C) | ENSP00000266376.6:p.Met2065Thr | |
| ENST00000399603.6:c.6050T>C (CACNA1C) MANE Plus Clinical | ENSP00000382512.1:p.Met2017Thr | |
| ENST00000399641.6:c.6050T>C (CACNA1C) | ENSP00000382549.1:p.Met2017Thr | |
| ENST00000399655.6:c.6050T>C (CACNA1C) MANE Select | ENSP00000382563.1:p.Met2017Thr | |
| ENST00000327702.11:c.6155T>C (CACNA1C) | ENSP00000329877.7:p.Met2052Thr | |
| ENST00000335762.9:c.6125T>C (CACNA1C) | ENSP00000336982.5:p.Met2042Thr | |
| ENST00000344100.7:c.6173T>C (CACNA1C) | ENSP00000341092.3:p.Met2058Thr | |
| ENST00000347598.8:c.6194T>C (CACNA1C) | ENSP00000266376.6:p.Met2065Thr | |
| ENST00000399591.5:c.6074T>C (CACNA1C) | ENSP00000382500.1:p.Met2025Thr | |
| ENST00000399595.5:c.6074T>C (CACNA1C) | ENSP00000382504.1:p.Met2025Thr | |
| ENST00000399597.5:c.6050T>C (CACNA1C) | ENSP00000382506.1:p.Met2017Thr | |
| ENST00000399601.5:c.6050T>C (CACNA1C) | ENSP00000382510.1:p.Met2017Thr | |
| ENST00000399603.5:c.6050T>C (CACNA1C) | ENSP00000382512.1:p.Met2017Thr | |
| ENST00000399606.5:c.6110T>C (CACNA1C) | ENSP00000382515.1:p.Met2037Thr | |
| ENST00000399617.5:c.6155T>C (CACNA1C) | ENSP00000382526.1:p.Met2052Thr | |
| ENST00000399621.5:c.6107T>C (CACNA1C) | ENSP00000382530.1:p.Met2036Thr | |
| ENST00000399629.5:c.6101T>C (CACNA1C) | ENSP00000382537.1:p.Met2034Thr | |
| ENST00000399634.5:c.6263T>C (CACNA1C) | ENSP00000382542.1:p.Met2088Thr | |
| ENST00000399637.5:c.6107T>C (CACNA1C) | ENSP00000382546.1:p.Met2036Thr | |
| ENST00000399638.5:c.6134T>C (CACNA1C) | ENSP00000382547.1:p.Met2045Thr | |
| ENST00000399641.5:c.6050T>C (CACNA1C) | ENSP00000382549.1:p.Met2017Thr | |
| ENST00000399644.5:c.6050T>C (CACNA1C) | ENSP00000382552.1:p.Met2017Thr | |
| ENST00000399649.5:c.6068T>C (CACNA1C) | ENSP00000382557.1:p.Met2023Thr | |
| ENST00000399655.5:c.6050T>C (CACNA1C) | ENSP00000382563.1:p.Met2017Thr | |
| ENST00000402845.7:c.6107T>C (CACNA1C) | ENSP00000385724.3:p.Met2036Thr | |
| ENST00000406454.7:c.6263T>C (CACNA1C) | ENSP00000385896.3:p.Met2088Thr | |
| ENST00000613940.4:c.5678T>C (CACNA1C) | ENSP00000483335.1:p.Met1893Thr | |
| ENST00000615303.4:c.5822T>C (CACNA1C) | ENSP00000480922.1:p.Met1941Thr | |
| ENST00000615400.4:c.5717T>C (CACNA1C) | ENSP00000480292.1:p.Met1906Thr | |
| ENST00000616390.1:c.2123T>C (CACNA1C) | ENSP00000482910.1:p.Met708Thr | |
| ENST00000620878.4:c.5753T>C (CACNA1C) | ENSP00000479029.1:p.Met1918Thr | |
| ENST00000621625.4:c.5678T>C (CACNA1C) | ENSP00000484796.1:p.Met1893Thr | |
| NM_000719.6:c.6050T>C , LRG_334t1:c.6050T>C (CACNA1C) | NP_000710.5:p.Met2017Thr | |
| NM_001129827.1:c.6194T>C , LRG_334t2:c.6194T>C (CACNA1C) | NP_001123299.1:p.Met2065Thr | |
| NM_001129829.1:c.6173T>C (CACNA1C) | NP_001123301.1:p.Met2058Thr | |
| NM_001129830.2:c.6155T>C (CACNA1C) | NP_001123302.2:p.Met2052Thr | |
| NM_001129831.1:c.6134T>C (CACNA1C) | NP_001123303.1:p.Met2045Thr | |
| NM_001129832.1:c.6110T>C (CACNA1C) | NP_001123304.1:p.Met2037Thr | |
| NM_001129833.1:c.6107T>C (CACNA1C) | NP_001123305.1:p.Met2036Thr | |
| NM_001129834.1:c.6107T>C (CACNA1C) | NP_001123306.1:p.Met2036Thr | |
| NM_001129835.1:c.6107T>C (CACNA1C) | NP_001123307.1:p.Met2036Thr | |
| NM_001129836.1:c.6101T>C (CACNA1C) | NP_001123308.1:p.Met2034Thr | |
| NM_001129837.1:c.6074T>C (CACNA1C) | NP_001123309.1:p.Met2025Thr | |
| NM_001129838.1:c.6074T>C (CACNA1C) | NP_001123310.1:p.Met2025Thr | |
| NM_001129839.1:c.6068T>C (CACNA1C) | NP_001123311.1:p.Met2023Thr | |
| NM_001129840.1:c.6050T>C , LRG_334t4:c.6050T>C (CACNA1C) | NP_001123312.1:p.Met2017Thr | |
| NM_001129841.1:c.6050T>C (CACNA1C) | NP_001123313.1:p.Met2017Thr | |
| NM_001129842.1:c.6050T>C (CACNA1C) | NP_001123314.1:p.Met2017Thr | |
| NM_001129843.1:c.6050T>C (CACNA1C) | NP_001123315.1:p.Met2017Thr | |
| NM_001129844.1:c.6041T>C (CACNA1C) | NP_001123316.1:p.Met2014Thr | |
| NM_001129846.1:c.6017T>C (CACNA1C) | NP_001123318.1:p.Met2006Thr | |
| NM_001167623.1:c.6050T>C (CACNA1C) | NP_001161095.1:p.Met2017Thr | |
| NM_001167624.2:c.6155T>C (CACNA1C) | NP_001161096.2:p.Met2052Thr | |
| NM_001167625.1:c.6230T>C (CACNA1C) | NP_001161097.1:p.Met2077Thr | |
| NM_199460.3:c.6299T>C (CACNA1C) | NP_955630.3:p.Met2100Thr | |
| NR_045725.1:n.333+1428A>G (CACNA1C-AS1) | ||
| XM_006719017.1:c.6140T>C (CACNA1C) | XP_006719080.1:p.Met2047Thr | |
| XM_011521017.1:c.5669T>C (CACNA1C) | XP_011519319.1:p.Met1890Thr | |
| XM_011521018.1:c.5114T>C (CACNA1C) | XP_011519320.1:p.Met1705Thr | |
| XM_011521019.1:c.3224T>C (CACNA1C) | XP_011519321.1:p.Met1075Thr | |
| XM_011521020.1:c.6215T>C (CACNA1C) | XP_011519322.1:p.Met2072Thr | |
| XM_011521021.1:c.6368T>C (CACNA1C) | XP_011519323.1:p.Met2123Thr | |
| XM_011521022.1:c.6368T>C (CACNA1C) | XP_011519324.1:p.Met2123Thr | |
| XM_011521023.1:c.6125T>C (CACNA1C) | XP_011519325.1:p.Met2042Thr | |
| XM_006719017.2:c.6140T>C (CACNA1C) | XP_006719080.1:p.Met2047Thr | |
| XM_011521020.2:c.6215T>C (CACNA1C) | XP_011519322.1:p.Met2072Thr | |
| XM_011521023.3:c.6125T>C (CACNA1C) | XP_011519325.1:p.Met2042Thr | |
| XM_017019926.2:c.6872T>C (CACNA1C) | XP_016875415.1:p.Met2291Thr | |
| XM_017019927.2:c.6767T>C (CACNA1C) | XP_016875416.1:p.Met2256Thr | |
| XM_017019928.2:c.6554T>C (CACNA1C) | XP_016875417.1:p.Met2185Thr | |
| XM_017019929.2:c.6497T>C (CACNA1C) | XP_016875418.1:p.Met2166Thr | |
| XM_017019930.2:c.6497T>C (CACNA1C) | XP_016875419.1:p.Met2166Thr | |
| XM_017019931.2:c.6413T>C (CACNA1C) | XP_016875420.1:p.Met2138Thr | |
| XM_017019932.2:c.6398T>C (CACNA1C) | XP_016875421.1:p.Met2133Thr | |
| XM_017019933.2:c.6302T>C (CACNA1C) | XP_016875422.1:p.Met2101Thr | |
| XM_017019934.2:c.6293T>C (CACNA1C) | XP_016875423.1:p.Met2098Thr | |
| XM_017019935.2:c.6293T>C (CACNA1C) | XP_016875424.1:p.Met2098Thr | |
| XM_017019936.2:c.6275T>C (CACNA1C) | XP_016875425.1:p.Met2092Thr | |
| XM_017019937.2:c.6275T>C (CACNA1C) | XP_016875426.1:p.Met2092Thr | |
| XM_017019938.2:c.6275T>C (CACNA1C) | XP_016875427.1:p.Met2092Thr | |
| XM_017019939.2:c.6269T>C (CACNA1C) | XP_016875428.1:p.Met2090Thr | |
| XM_017019940.2:c.6242T>C (CACNA1C) | XP_016875429.1:p.Met2081Thr | |
| XM_017019941.2:c.6236T>C (CACNA1C) | XP_016875430.1:p.Met2079Thr | |
| XM_017019942.2:c.6218T>C (CACNA1C) | XP_016875431.1:p.Met2073Thr | |
| XM_017019943.2:c.6218T>C (CACNA1C) | XP_016875432.1:p.Met2073Thr | |
| XM_017019944.2:c.6218T>C (CACNA1C) | XP_016875433.1:p.Met2073Thr | |
| XM_017019945.2:c.6218T>C (CACNA1C) | XP_016875434.1:p.Met2073Thr | |
| XM_017019946.2:c.6218T>C (CACNA1C) | XP_016875435.1:p.Met2073Thr | |
| XM_017019947.2:c.6218T>C (CACNA1C) | XP_016875436.1:p.Met2073Thr | |
| XM_017019948.2:c.6218T>C (CACNA1C) | XP_016875437.1:p.Met2073Thr | |
| XM_017019949.2:c.6218T>C (CACNA1C) | XP_016875438.1:p.Met2073Thr | |
| XM_017019950.2:c.6212T>C (CACNA1C) | XP_016875439.1:p.Met2071Thr | |
| XM_017019951.2:c.6209T>C (CACNA1C) | XP_016875440.1:p.Met2070Thr | |
| XM_017019952.2:c.6185T>C (CACNA1C) | XP_016875441.1:p.Met2062Thr | |
| XM_017019953.1:c.6140T>C (CACNA1C) | XP_016875442.1:p.Met2047Thr | |
| XM_017019954.1:c.6140T>C (CACNA1C) | XP_016875443.1:p.Met2047Thr | |
| XM_017019955.2:c.6293T>C (CACNA1C) | XP_016875444.1:p.Met2098Thr | |
| NM_000719.7:c.6050T>C (CACNA1C) MANE Select | NP_000710.5:p.Met2017Thr | |
| NM_001129827.2:c.6194T>C (CACNA1C) | NP_001123299.1:p.Met2065Thr | |
| NM_001129830.3:c.6155T>C (CACNA1C) | NP_001123302.2:p.Met2052Thr | |
| NM_001129840.2:c.6050T>C (CACNA1C) | NP_001123312.1:p.Met2017Thr | |
| NM_001167623.2:c.6050T>C (CACNA1C) MANE Plus Clinical | NP_001161095.1:p.Met2017Thr | |
| NM_001129829.2:c.6173T>C (CACNA1C) | NP_001123301.1:p.Met2058Thr | |
| NM_001129831.2:c.6134T>C (CACNA1C) | NP_001123303.1:p.Met2045Thr | |
| NM_001129832.2:c.6110T>C (CACNA1C) | NP_001123304.1:p.Met2037Thr | |
| NM_001129833.2:c.6107T>C (CACNA1C) | NP_001123305.1:p.Met2036Thr | |
| NM_001129834.2:c.6107T>C (CACNA1C) | NP_001123306.1:p.Met2036Thr | |
| NM_001129835.2:c.6107T>C (CACNA1C) | NP_001123307.1:p.Met2036Thr | |
| NM_001129836.2:c.6101T>C (CACNA1C) | NP_001123308.1:p.Met2034Thr | |
| NM_001129837.2:c.6074T>C (CACNA1C) | NP_001123309.1:p.Met2025Thr | |
| NM_001129838.2:c.6074T>C (CACNA1C) | NP_001123310.1:p.Met2025Thr | |
| NM_001129839.2:c.6068T>C (CACNA1C) | NP_001123311.1:p.Met2023Thr | |
| NM_001129841.2:c.6050T>C (CACNA1C) | NP_001123313.1:p.Met2017Thr | |
| NM_001129842.2:c.6050T>C (CACNA1C) | NP_001123314.1:p.Met2017Thr | |
| NM_001129843.2:c.6050T>C (CACNA1C) | NP_001123315.1:p.Met2017Thr | |
| NM_001129844.2:c.6041T>C (CACNA1C) | NP_001123316.1:p.Met2014Thr | |
| NM_001129846.2:c.6017T>C (CACNA1C) | NP_001123318.1:p.Met2006Thr | |
| NM_001167624.3:c.6155T>C (CACNA1C) | NP_001161096.2:p.Met2052Thr | |
| NM_001167625.2:c.6230T>C (CACNA1C) | NP_001161097.1:p.Met2077Thr | |
| NM_199460.4:c.6299T>C (CACNA1C) | NP_955630.3:p.Met2100Thr |