Canonical Allele Identifier: CA383454989
Gene: KCNA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912010T>A , CM000674.2:g.4912010T>A GRCh38
NC_000012.11:g.5021176T>A , CM000674.1:g.5021176T>A GRCh37
NC_000012.10:g.4891437T>A NCBI36
NG_011815.1:g.7104T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.632T>A MANE Select ENSP00000371985.3:p.Ile211Asn
ENST00000543874.3:n.105+1538T>A
ENST00000639306.1:c.470T>A ENSP00000492506.1:p.Ile157Asn
ENST00000382545.3:c.632T>A ENSP00000371985.3:p.Ile211Asn
ENST00000541095.1:n.105+1538T>A
ENST00000543874.2:n.96+1538T>A
NM_000217.2:c.632T>A NP_000208.2:p.Ile211Asn
NM_000217.3:c.632T>A MANE Select NP_000208.2:p.Ile211Asn