Canonical Allele Identifier: CA383454860
Gene: KCNA1 HGNC NCBI

Linked Data

gnomAD v4: 12-4911952-C-G

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.574C>G MANE Select ENSP00000371985.3:p.Leu192Val
ENST00000543874.3:n.105+1480C>G
ENST00000639306.1:c.412C>G ENSP00000492506.1:p.Leu138Val
ENST00000382545.3:c.574C>G ENSP00000371985.3:p.Leu192Val
ENST00000541095.1:n.105+1480C>G
ENST00000543874.2:n.96+1480C>G
NM_000217.2:c.574C>G NP_000208.2:p.Leu192Val
NM_000217.3:c.574C>G MANE Select NP_000208.2:p.Leu192Val