Canonical Allele Identifier: CA231856240
Gene: KCNA1 HGNC NCBI

Linked Data

dbSNP Id: rs979698553
gnomAD v2: 12-5021816-G-C
gnomAD v3: 12-4912650-G-C
gnomAD v4: 12-4912650-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912650G>C , CM000674.2:g.4912650G>C GRCh38
NC_000012.11:g.5021816G>C , CM000674.1:g.5021816G>C GRCh37
NC_000012.10:g.4892077G>C NCBI36
NG_011815.1:g.7744G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1272G>C MANE Select ENSP00000371985.3:p.Gln424His
ENST00000543874.3:n.105+2178G>C
ENST00000639306.1:c.1110G>C ENSP00000492506.1:p.Gln370His
ENST00000639680.1:c.76+384G>C
ENST00000382545.3:c.1272G>C ENSP00000371985.3:p.Gln424His
ENST00000541095.1:n.105+2178G>C
ENST00000543874.2:n.96+2178G>C
NM_000217.2:c.1272G>C NP_000208.2:p.Gln424His
NM_000217.3:c.1272G>C MANE Select NP_000208.2:p.Gln424His