Canonical Allele Identifier: CA383456129

Gene: KCNA1

Linked Data

• gnomAD v4: 12-4912516-C-T
• MyVariant Identifiers: chr12:g.5021682C>T (hg19) ; chr12:g.4912516C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912516C>T , CM000674.2:g.4912516C>T	GRCh38
NC_000012.11:g.5021682C>T , CM000674.1:g.5021682C>T	GRCh37
NC_000012.10:g.4891943C>T	NCBI36
NG_011815.1:g.7610C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1138C>T MANE Select	ENSP00000371985.3:p.Pro380Ser
ENST00000543874.3:n.105+2044C>T
ENST00000639306.1:c.976C>T	ENSP00000492506.1:p.Pro326Ser
ENST00000639680.1:c.76+250C>T
ENST00000382545.3:c.1138C>T	ENSP00000371985.3:p.Pro380Ser
ENST00000541095.1:n.105+2044C>T
ENST00000543874.2:n.96+2044C>T
NM_000217.2:c.1138C>T	NP_000208.2:p.Pro380Ser
NM_000217.3:c.1138C>T MANE Select	NP_000208.2:p.Pro380Ser