Canonical Allele Identifier: CA2579829544

Gene: HBG1 HBG2

Linked Data

• gnomAD v4: 11-5249867-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249867C>T , CM000673.2:g.5249867C>T	GRCh38
NC_000011.9:g.5271097C>T , CM000673.1:g.5271097C>T	GRCh37
NC_000011.8:g.5227673C>T	NCBI36
NG_000007.3:g.47749G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642908.1:c.316-1380G>A	ENSP00000495346.1:n.316-1380G>A
ENST00000647543.1:c.379-1380G>A	ENSP00000496470.1:n.379-1380G>A
ENST00000330597.3:c.-63G>A (HBG1)	ENSP00000327431.3:n.-63G>A
ENST00000620888.4:c.316-1380G>A (HBG2)	ENSP00000479637.1:n.316-1380G>A