Canonical Allele Identifier: CA383455312
Gene: KCNA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5021319A>C (hg19) chr12:g.4912153A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912153A>C , CM000674.2:g.4912153A>C GRCh38
NC_000012.11:g.5021319A>C , CM000674.1:g.5021319A>C GRCh37
NC_000012.10:g.4891580A>C NCBI36
NG_011815.1:g.7247A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000382545.5:c.775A>C MANE Select ENSP00000371985.3:p.Ile259Leu
ENST00000543874.3:n.105+1681A>C
ENST00000639306.1:c.613A>C ENSP00000492506.1:p.Ile205Leu
ENST00000382545.3:c.775A>C ENSP00000371985.3:p.Ile259Leu
ENST00000541095.1:n.105+1681A>C
ENST00000543874.2:n.96+1681A>C
NM_000217.2:c.775A>C NP_000208.2:p.Ile259Leu
NM_000217.3:c.775A>C MANE Select NP_000208.2:p.Ile259Leu
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