Canonical Allele Identifier: CA383465495
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1333918540
COSMIC: COSM5016986
MyVariant Identifiers: chr12:g.5154281C>A (hg19) chr12:g.5045115C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045115C>A , CM000674.2:g.5045115C>A GRCh38
NC_000012.11:g.5154281C>A , CM000674.1:g.5154281C>A GRCh37
NC_000012.10:g.5024542C>A NCBI36
NG_012198.1:g.6197C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.968C>A MANE Select ENSP00000252321.3:p.Pro323His
ENST00000252321.4:c.968C>A ENSP00000252321.3:p.Pro323His
NM_002234.3:c.968C>A NP_002225.2:p.Pro323His
NM_002234.4:c.968C>A MANE Select NP_002225.2:p.Pro323His
Search 100 bp 5'
Search 100 bp 3'