Canonical Allele Identifier: CA383456363

Gene: KCNA1

Linked Data

• dbSNP Id: rs104894358
• gnomAD v2: 12-5021793-C-G
• gnomAD v4: 12-4912627-C-G
• MyVariant Identifiers: chr12:g.5021793C>G (hg19) ; chr12:g.4912627C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912627C>G , CM000674.2:g.4912627C>G	GRCh38
NC_000012.11:g.5021793C>G , CM000674.1:g.5021793C>G	GRCh37
NC_000012.10:g.4892054C>G	NCBI36
NG_011815.1:g.7721C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1249C>G MANE Select	ENSP00000371985.3:p.Arg417Gly
ENST00000543874.3:n.105+2155C>G
ENST00000639306.1:c.1087C>G	ENSP00000492506.1:p.Arg363Gly
ENST00000639680.1:c.76+361C>G
ENST00000382545.3:c.1249C>G	ENSP00000371985.3:p.Arg417Gly
ENST00000541095.1:n.105+2155C>G
ENST00000543874.2:n.96+2155C>G
NM_000217.2:c.1249C>G	NP_000208.2:p.Arg417Gly
NM_000217.3:c.1249C>G MANE Select	NP_000208.2:p.Arg417Gly