Canonical Allele Identifier: CA478094530

Gene: KCNA1

Linked Data

• MyVariant Identifiers: chr12:g.5021408G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912242G>T , CM000674.2:g.4912242G>T	GRCh38
NC_000012.11:g.5021408G>T , CM000674.1:g.5021408G>T	GRCh37
NC_000012.10:g.4891669G>T	NCBI36
NG_011815.1:g.7336G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.864G>T MANE Select	ENSP00000371985.3:p.Leu288=
ENST00000543874.3:n.105+1770G>T
ENST00000639306.1:c.702G>T	ENSP00000492506.1:p.Leu234=
ENST00000639680.1:c.52G>T
ENST00000382545.3:c.864G>T	ENSP00000371985.3:p.Leu288=
ENST00000541095.1:n.105+1770G>T
ENST00000543874.2:n.96+1770G>T
NM_000217.2:c.864G>T	NP_000208.2:p.Leu288=
NM_000217.3:c.864G>T MANE Select	NP_000208.2:p.Leu288=