Canonical Allele Identifier: CA231869517

Gene: KCNA5

Linked Data

• dbSNP Id: rs1018744925
• gnomAD v3: 12-5046055-T-C
• gnomAD v4: 12-5046055-T-C
• MyVariant Identifiers: chr12:g.5155221T>C (hg19) ; chr12:g.5046055T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5046055T>C , CM000674.2:g.5046055T>C	GRCh38
NC_000012.11:g.5155221T>C , CM000674.1:g.5155221T>C	GRCh37
NC_000012.10:g.5025482T>C	NCBI36
NG_012198.1:g.7137T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.*66T>C MANE Select	ENSP00000252321.3:n.*66T>C
ENST00000252321.4:c.*66T>C	ENSP00000252321.3:n.*66T>C
NM_002234.3:c.*66T>C	NP_002225.2:n.*66T>C
NM_002234.4:c.*66T>C MANE Select	NP_002225.2:n.*66T>C