Canonical Allele Identifier: CA256880
Community Standard Title: NM_000217.3(KCNA1):c.1210G>A (p.Val404Ile)
Gene: KCNA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912588G>A , CM000674.2:g.4912588G>A GRCh38
NC_000012.11:g.5021754G>A , CM000674.1:g.5021754G>A GRCh37
NC_000012.10:g.4892015G>A NCBI36
NG_011815.1:g.7682G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000217.3:c.1210G>A MANE Select NP_000208.2:p.Val404Ile
ENST00000382545.5:c.1210G>A MANE Select ENSP00000371985.3:p.Val404Ile
NM_000217.2:c.1210G>A NP_000208.2:p.Val404Ile
ENST00000382545.3:c.1210G>A ENSP00000371985.3:p.Val404Ile
ENST00000541095.1:n.105+2116G>A
ENST00000543874.2:n.96+2116G>A
ENST00000543874.3:n.105+2116G>A
ENST00000639306.1:c.1048G>A ENSP00000492506.1:p.Val350Ile
ENST00000639680.1:c.76+322G>A
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