Canonical Allele Identifier: CA383465437
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs774730073
gnomAD v4: 12-5045079-C-A
COSMIC: COSM6137127
MyVariant Identifiers: chr12:g.5154245C>A (hg19) chr12:g.5045079C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045079C>A , CM000674.2:g.5045079C>A GRCh38
NC_000012.11:g.5154245C>A , CM000674.1:g.5154245C>A GRCh37
NC_000012.10:g.5024506C>A NCBI36
NG_012198.1:g.6161C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000252321.5:c.932C>A MANE Select ENSP00000252321.3:p.Thr311Lys
ENST00000252321.4:c.932C>A ENSP00000252321.3:p.Thr311Lys
NM_002234.3:c.932C>A NP_002225.2:p.Thr311Lys
NM_002234.4:c.932C>A MANE Select NP_002225.2:p.Thr311Lys
Search 100 bp 5'
Search 100 bp 3'