Canonical Allele Identifier: CA383455302
Gene: KCNA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.5021314T>G (hg19) chr12:g.4912148T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4912148T>G , CM000674.2:g.4912148T>G GRCh38
NC_000012.11:g.5021314T>G , CM000674.1:g.5021314T>G GRCh37
NC_000012.10:g.4891575T>G NCBI36
NG_011815.1:g.7242T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000382545.5:c.770T>G MANE Select ENSP00000371985.3:p.Ile257Arg
ENST00000543874.3:n.105+1676T>G
ENST00000639306.1:c.608T>G ENSP00000492506.1:p.Ile203Arg
ENST00000382545.3:c.770T>G ENSP00000371985.3:p.Ile257Arg
ENST00000541095.1:n.105+1676T>G
ENST00000543874.2:n.96+1676T>G
NM_000217.2:c.770T>G NP_000208.2:p.Ile257Arg
NM_000217.3:c.770T>G MANE Select NP_000208.2:p.Ile257Arg
Search 100 bp 5'
Search 100 bp 3'