Canonical Allele Identifier: CA478095706
Gene: KCNA5 HGNC NCBI

Linked Data

dbSNP Id: rs1475922052
gnomAD v2: 12-5154579-C-A
gnomAD v4: 12-5045413-C-A
MyVariant Identifiers: chr12:g.5154579C>A (hg19) chr12:g.5045413C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5045413C>A , CM000674.2:g.5045413C>A GRCh38
NC_000012.11:g.5154579C>A , CM000674.1:g.5154579C>A GRCh37
NC_000012.10:g.5024840C>A NCBI36
NG_012198.1:g.6495C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252321.5:c.1266C>A MANE Select ENSP00000252321.3:p.Ile422=
ENST00000252321.4:c.1266C>A ENSP00000252321.3:p.Ile422=
NM_002234.3:c.1266C>A NP_002225.2:p.Ile422=
NM_002234.4:c.1266C>A MANE Select NP_002225.2:p.Ile422=
Search 100 bp 5'
Search 100 bp 3'