Canonical Allele Identifier: CA383466778

Gene: KCNA5

Linked Data

• dbSNP Id: rs376656991
• gnomAD v2: 12-5154886-C-G
• gnomAD v4: 12-5045720-C-G
• MyVariant Identifiers: chr12:g.5154886C>G (hg19) ; chr12:g.5045720C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5045720C>G , CM000674.2:g.5045720C>G	GRCh38
NC_000012.11:g.5154886C>G , CM000674.1:g.5154886C>G	GRCh37
NC_000012.10:g.5025147C>G	NCBI36
NG_012198.1:g.6802C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.1573C>G MANE Select	ENSP00000252321.3:p.Arg525Gly
ENST00000252321.4:c.1573C>G	ENSP00000252321.3:p.Arg525Gly
NM_002234.3:c.1573C>G	NP_002225.2:p.Arg525Gly
NM_002234.4:c.1573C>G MANE Select	NP_002225.2:p.Arg525Gly