Canonical Allele Identifier: CA383454395
Gene: KCNA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4911744G>C , CM000674.2:g.4911744G>C GRCh38
NC_000012.11:g.5020910G>C , CM000674.1:g.5020910G>C GRCh37
NC_000012.10:g.4891171G>C NCBI36
NG_011815.1:g.6838G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.366G>C MANE Select ENSP00000371985.3:p.Leu122Phe
ENST00000543874.3:n.105+1272G>C
ENST00000639306.1:c.204G>C ENSP00000492506.1:p.Leu68Phe
ENST00000382545.3:c.366G>C ENSP00000371985.3:p.Leu122Phe
ENST00000541095.1:n.105+1272G>C
ENST00000543874.2:n.96+1272G>C
NM_000217.2:c.366G>C NP_000208.2:p.Leu122Phe
NM_000217.3:c.366G>C MANE Select NP_000208.2:p.Leu122Phe