Canonical Allele Identifier: CA6399864
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs768740011
ExAC: 12:5154720 C / A
gnomAD v2: 12-5154720-C-A
gnomAD v4: 12-5045554-C-A
COSMIC: COSM694296
MyVariant Identifiers: chr12:g.5154720C>A (hg19) chr12:g.5045554C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045554C>A , CM000674.2:g.5045554C>A GRCh38
NC_000012.11:g.5154720C>A , CM000674.1:g.5154720C>A GRCh37
NC_000012.10:g.5024981C>A NCBI36
NG_012198.1:g.6636C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1407C>A MANE Select ENSP00000252321.3:p.Asp469Glu
ENST00000252321.4:c.1407C>A ENSP00000252321.3:p.Asp469Glu
NM_002234.3:c.1407C>A NP_002225.2:p.Asp469Glu
NM_002234.4:c.1407C>A MANE Select NP_002225.2:p.Asp469Glu
Search 100 bp 5'
Search 100 bp 3'