Canonical Allele Identifier: CA603072770

Gene: KCNA5

Linked Data

• dbSNP Id: rs1473939713
• gnomAD v2: 12-5155190-G-C
• gnomAD v4: 12-5046024-G-C
• MyVariant Identifiers: chr12:g.5155190G>C (hg19) ; chr12:g.5046024G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5046024G>C , CM000674.2:g.5046024G>C	GRCh38
NC_000012.11:g.5155190G>C , CM000674.1:g.5155190G>C	GRCh37
NC_000012.10:g.5025451G>C	NCBI36
NG_012198.1:g.7106G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252321.5:c.*35G>C MANE Select	ENSP00000252321.3:n.*35G>C
ENST00000252321.4:c.*35G>C	ENSP00000252321.3:n.*35G>C
NM_002234.3:c.*35G>C	NP_002225.2:n.*35G>C
NM_002234.4:c.*35G>C MANE Select	NP_002225.2:n.*35G>C