Canonical Allele Identifier: CA478094908
Gene: KCNA1 HGNC NCBI

Linked Data

COSMIC: COSM219473
MyVariant Identifiers: chr12:g.5021715T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912549T>C , CM000674.2:g.4912549T>C GRCh38
NC_000012.11:g.5021715T>C , CM000674.1:g.5021715T>C GRCh37
NC_000012.10:g.4891976T>C NCBI36
NG_011815.1:g.7643T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382545.5:c.1171T>C MANE Select ENSP00000371985.3:p.Leu391=
ENST00000543874.3:n.105+2077T>C
ENST00000639306.1:c.1009T>C ENSP00000492506.1:p.Leu337=
ENST00000639680.1:c.76+283T>C
ENST00000382545.3:c.1171T>C ENSP00000371985.3:p.Leu391=
ENST00000541095.1:n.105+2077T>C
ENST00000543874.2:n.96+2077T>C
NM_000217.2:c.1171T>C NP_000208.2:p.Leu391=
NM_000217.3:c.1171T>C MANE Select NP_000208.2:p.Leu391=
Search 100 bp 5'
Search 100 bp 3'