Canonical Allele Identifier: CA040524

Gene: ABO

Linked Data

• ClinVar Variation Id: 242740
• ClinVar RCV Id: RCV001003444
• dbSNP Id: rs8176747
• ExAC: 9:136131315 C / G
• gnomAD v2: 9-136131315-C-G
• gnomAD v3: 9-133255928-C-G
• gnomAD v4: 9-133255928-C-G
• COSMIC: COSM3952439
• MyVariant Identifiers: chr9:g.136131315C>G (hg19) ; chr9:g.133255928C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255928C>G , CM000671.2:g.133255928C>G	GRCh38
NC_000009.11:g.136131315C>G , CM000671.1:g.136131315C>G	GRCh37
NC_000009.10:g.135121136C>G	NCBI36
NG_006669.1:g.21740G>C
NG_006669.2:g.24288G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.832G>C
ENST00000647353.1:n.54-4776G>C
ENST00000679909.1:c.28+19234G>C	ENSP00000506089.1:n.28+19234G>C
ENST00000453660.3:n.814G>C
ENST00000538324.2:c.800G>C	ENSP00000483018.1:p.Gly267Ala
ENST00000611156.4:c.800G>C	ENSP00000483265.1:p.Gly267Ala
NM_020469.2:c.803G>C	NP_065202.2:p.Gly268Ala
NM_020469.3:c.803G>C	NP_065202.2:p.Gly268Ala