Canonical Allele Identifier: CA478094933

Gene: KCNA1

Linked Data

• MyVariant Identifiers: chr12:g.5021735G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912569G>C , CM000674.2:g.4912569G>C	GRCh38
NC_000012.11:g.5021735G>C , CM000674.1:g.5021735G>C	GRCh37
NC_000012.10:g.4891996G>C	NCBI36
NG_011815.1:g.7663G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1191G>C MANE Select	ENSP00000371985.3:p.Val397=
ENST00000543874.3:n.105+2097G>C
ENST00000639306.1:c.1029G>C	ENSP00000492506.1:p.Val343=
ENST00000639680.1:c.76+303G>C
ENST00000382545.3:c.1191G>C	ENSP00000371985.3:p.Val397=
ENST00000541095.1:n.105+2097G>C
ENST00000543874.2:n.96+2097G>C
NM_000217.2:c.1191G>C	NP_000208.2:p.Val397=
NM_000217.3:c.1191G>C MANE Select	NP_000208.2:p.Val397=