Canonical Allele Identifier: CA5305779

Gene: ABO

Linked Data

• ClinVar Variation Id: 812632
• ClinVar RCV Id: RCV001003450
• dbSNP Id: rs8176740
• ExAC: 9:136131472 A / T
• gnomAD v2: 9-136131472-A-T
• gnomAD v3: 9-133256085-A-T
• gnomAD v4: 9-133256085-A-T
• MyVariant Identifiers: chr9:g.136131472A>T (hg19) ; chr9:g.133256085A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256085A>T , CM000671.2:g.133256085A>T	GRCh38
NC_000009.11:g.136131472A>T , CM000671.1:g.136131472A>T	GRCh37
NC_000009.10:g.135121293A>T	NCBI36
NG_006669.1:g.21583T>A
NG_006669.2:g.24131T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.675T>A
ENST00000647353.1:n.54-4933T>A
ENST00000679909.1:c.28+19077T>A	ENSP00000506089.1:n.28+19077T>A
ENST00000453660.3:n.657T>A
ENST00000538324.2:c.643T>A	ENSP00000483018.1:p.Phe215Ile
ENST00000611156.4:c.643T>A	ENSP00000483265.1:p.Phe215Ile
NM_020469.2:c.646T>A	NP_065202.2:p.Phe216Ile
NM_020469.3:c.646T>A	NP_065202.2:p.Phe216Ile