Canonical Allele Identifier: CA383456186
Gene: KCNA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912543G>A , CM000674.2:g.4912543G>A GRCh38
NC_000012.11:g.5021709G>A , CM000674.1:g.5021709G>A GRCh37
NC_000012.10:g.4891970G>A NCBI36
NG_011815.1:g.7637G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1165G>A MANE Select ENSP00000371985.3:p.Gly389Ser
ENST00000543874.3:n.105+2071G>A
ENST00000639306.1:c.1003G>A ENSP00000492506.1:p.Gly335Ser
ENST00000639680.1:c.76+277G>A
ENST00000382545.3:c.1165G>A ENSP00000371985.3:p.Gly389Ser
ENST00000541095.1:n.105+2071G>A
ENST00000543874.2:n.96+2071G>A
NM_000217.2:c.1165G>A NP_000208.2:p.Gly389Ser
NM_000217.3:c.1165G>A MANE Select NP_000208.2:p.Gly389Ser