Canonical Allele Identifier: CA383462010

Gene: KCNA5

Linked Data

• dbSNP Id: rs1380425234
• gnomAD v2: 12-5153470-G-C
• gnomAD v4: 12-5044304-G-C
• MyVariant Identifiers: chr12:g.5153470G>C (hg19) ; chr12:g.5044304G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5044304G>C , CM000674.2:g.5044304G>C	GRCh38
NC_000012.11:g.5153470G>C , CM000674.1:g.5153470G>C	GRCh37
NC_000012.10:g.5023731G>C	NCBI36
NG_012198.1:g.5386G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.157G>C MANE Select	ENSP00000252321.3:p.Gly53Arg
ENST00000252321.4:c.157G>C	ENSP00000252321.3:p.Gly53Arg
NM_002234.3:c.157G>C	NP_002225.2:p.Gly53Arg
NM_002234.4:c.157G>C MANE Select	NP_002225.2:p.Gly53Arg