Canonical Allele Identifier: CA934695691

Gene: HBG1 HBG2

Linked Data

• dbSNP Id: rs1847926239
• gnomAD v3: 11-5249863-A-G
• gnomAD v4: 11-5249863-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249863A>G , CM000673.2:g.5249863A>G	GRCh38
NC_000011.9:g.5271093A>G , CM000673.1:g.5271093A>G	GRCh37
NC_000011.8:g.5227669A>G	NCBI36
NG_000007.3:g.47753T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642908.1:c.316-1376T>C	ENSP00000495346.1:n.316-1376T>C
ENST00000647543.1:c.379-1376T>C	ENSP00000496470.1:n.379-1376T>C
ENST00000330597.3:c.-59T>C (HBG1)	ENSP00000327431.3:n.-59T>C
ENST00000620888.4:c.316-1376T>C (HBG2)	ENSP00000479637.1:n.316-1376T>C