Canonical Allele Identifier: CA478094610
Gene: KCNA1 HGNC NCBI

Linked Data

gnomAD v4: 12-4912662-C-G
MyVariant Identifiers: chr12:g.5021828C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912662C>G , CM000674.2:g.4912662C>G GRCh38
NC_000012.11:g.5021828C>G , CM000674.1:g.5021828C>G GRCh37
NC_000012.10:g.4892089C>G NCBI36
NG_011815.1:g.7756C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1284C>G MANE Select ENSP00000371985.3:p.Leu428=
ENST00000543874.3:n.105+2190C>G
ENST00000639306.1:c.1122C>G ENSP00000492506.1:p.Leu374=
ENST00000639680.1:c.76+396C>G
ENST00000382545.3:c.1284C>G ENSP00000371985.3:p.Leu428=
ENST00000541095.1:n.105+2190C>G
ENST00000543874.2:n.96+2190C>G
NM_000217.2:c.1284C>G NP_000208.2:p.Leu428=
NM_000217.3:c.1284C>G MANE Select NP_000208.2:p.Leu428=
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