Canonical Allele Identifier: CA383455315

Gene: KCNA1

Linked Data

• MyVariant Identifiers: chr12:g.5021320T>G (hg19) ; chr12:g.4912154T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912154T>G , CM000674.2:g.4912154T>G	GRCh38
NC_000012.11:g.5021320T>G , CM000674.1:g.5021320T>G	GRCh37
NC_000012.10:g.4891581T>G	NCBI36
NG_011815.1:g.7248T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000382545.5:c.776T>G MANE Select	ENSP00000371985.3:p.Ile259Ser
ENST00000543874.3:n.105+1682T>G
ENST00000639306.1:c.614T>G	ENSP00000492506.1:p.Ile205Ser
ENST00000382545.3:c.776T>G	ENSP00000371985.3:p.Ile259Ser
ENST00000541095.1:n.105+1682T>G
ENST00000543874.2:n.96+1682T>G
NM_000217.2:c.776T>G	NP_000208.2:p.Ile259Ser
NM_000217.3:c.776T>G MANE Select	NP_000208.2:p.Ile259Ser