Canonical Allele Identifier: CA379279945

Gene: HBG1 HBG2

Linked Data

• gnomAD v4: 11-5249461-A-C
• MyVariant Identifiers: chr11:g.5270691A>C (hg19) ; chr11:g.5249461A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249461A>C , CM000673.2:g.5249461A>C	GRCh38
NC_000011.9:g.5270691A>C , CM000673.1:g.5270691A>C	GRCh37
NC_000011.8:g.5227267A>C	NCBI36
NG_000007.3:g.48155T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.222T>G (HBG1) MANE Select	ENSP00000327431.4:p.Asp74Glu
ENST00000642908.1:c.316-974T>G	ENSP00000495346.1:n.316-974T>G
ENST00000647543.1:c.379-974T>G	ENSP00000496470.1:n.379-974T>G
ENST00000648735.1:n.273T>G (HBG1)
ENST00000330597.3:c.222T>G (HBG1)	ENSP00000327431.3:p.Asp74Glu
ENST00000620888.4:c.316-974T>G (HBG2)	ENSP00000479637.1:n.316-974T>G
ENST00000623781.1:c.133A>C	ENSP00000485381.1:p.Ile45Leu
ENST00000632727.1:c.*91T>G (HBG1)	ENSP00000488759.1:n.*91T>G
NM_000559.2:c.222T>G (HBG1)	NP_000550.2:p.Asp74Glu
NM_000559.3:c.222T>G (HBG1) MANE Select	NP_000550.2:p.Asp74Glu