Canonical Allele Identifier: CA478094655

Gene: KCNA1

Linked Data

• dbSNP Id: rs1565433417
• COSMIC: COSM3461757
• MyVariant Identifiers: chr12:g.5021486C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912320C>T , CM000674.2:g.4912320C>T	GRCh38
NC_000012.11:g.5021486C>T , CM000674.1:g.5021486C>T	GRCh37
NC_000012.10:g.4891747C>T	NCBI36
NG_011815.1:g.7414C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.942C>T MANE Select	ENSP00000371985.3:p.Ile314=
ENST00000543874.3:n.105+1848C>T
ENST00000639306.1:c.780C>T	ENSP00000492506.1:p.Ile260=
ENST00000639680.1:c.76+54C>T
ENST00000382545.3:c.942C>T	ENSP00000371985.3:p.Ile314=
ENST00000541095.1:n.105+1848C>T
ENST00000543874.2:n.96+1848C>T
NM_000217.2:c.942C>T	NP_000208.2:p.Ile314=
NM_000217.3:c.942C>T MANE Select	NP_000208.2:p.Ile314=