Canonical Allele Identifier: CA383454859
Gene: KCNA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911952C>A , CM000674.2:g.4911952C>A GRCh38
NC_000012.11:g.5021118C>A , CM000674.1:g.5021118C>A GRCh37
NC_000012.10:g.4891379C>A NCBI36
NG_011815.1:g.7046C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.574C>A MANE Select ENSP00000371985.3:p.Leu192Met
ENST00000543874.3:n.105+1480C>A
ENST00000639306.1:c.412C>A ENSP00000492506.1:p.Leu138Met
ENST00000382545.3:c.574C>A ENSP00000371985.3:p.Leu192Met
ENST00000541095.1:n.105+1480C>A
ENST00000543874.2:n.96+1480C>A
NM_000217.2:c.574C>A NP_000208.2:p.Leu192Met
NM_000217.3:c.574C>A MANE Select NP_000208.2:p.Leu192Met