Canonical Allele Identifier: CA078266
Gene: CACNA1S HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.201078005C>T
GRCh37 chr1:g.201047133C>T
Revel Score:
ENST00000362061 (MANE Select) 0.928
ENST00000367338 0.928
gnomAD v2:
1:201047133 C / T
gnomAD v3:
1:201078005 C / T
gnomAD v4:
chr1-201078005-C-T
Joint Max Group AF 0.00114218 (MID)
Genomes Max Group AF 0.00020667 (NFE)
Exomes Max Group AF 0.00119981 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201078005C>T , CM000663.2:g.201078005C>T GRCh38
NC_000001.10:g.201047133C>T , CM000663.1:g.201047133C>T GRCh37
NC_000001.9:g.199313756C>T NCBI36
NG_009816.1:g.39562G>A
NG_009816.2:g.39562G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.1493G>A MANE Select ENSP00000355192.3:p.Arg498His
ENST00000679417.1:c.*656G>A ENSP00000506706.1:n.*656G>A
ENST00000680059.1:c.1493G>A ENSP00000504944.1:p.Arg498His
ENST00000681078.1:c.1493G>A ENSP00000506645.1:p.Arg498His
ENST00000681190.1:c.1493G>A ENSP00000506428.1:p.Arg498His
ENST00000681874.1:c.1493G>A ENSP00000505162.1:p.Arg498His
ENST00000362061.3:c.1493G>A ENSP00000355192.3:p.Arg498His
ENST00000367338.7:c.1493G>A ENSP00000356307.3:p.Arg498His
NM_000069.2:c.1493G>A NP_000060.2:p.Arg498His
XM_005245478.2:c.1493G>A XP_005245535.1:p.Arg498His
XM_005245478.3:c.1493G>A XP_005245535.1:p.Arg498His
NM_000069.3:c.1493G>A MANE Select NP_000060.2:p.Arg498His
Search 100 bp 5'
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