Canonical Allele Identifier: CA379280256

Gene: HBG1 HBG2

Linked Data

• gnomAD v4: 11-5249571-A-G
• MyVariant Identifiers: chr11:g.5270801A>G (hg19) ; chr11:g.5249571A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249571A>G , CM000673.2:g.5249571A>G	GRCh38
NC_000011.9:g.5270801A>G , CM000673.1:g.5270801A>G	GRCh37
NC_000011.8:g.5227377A>G	NCBI36
NG_000007.3:g.48045T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.112T>C (HBG1) MANE Select	ENSP00000327431.4:p.Trp38Arg
ENST00000642908.1:c.316-1084T>C	ENSP00000495346.1:n.316-1084T>C
ENST00000647543.1:c.379-1084T>C	ENSP00000496470.1:n.379-1084T>C
ENST00000648735.1:n.163T>C (HBG1)
ENST00000330597.3:c.112T>C (HBG1)	ENSP00000327431.3:p.Trp38Arg
ENST00000620888.4:c.316-1084T>C (HBG2)	ENSP00000479637.1:n.316-1084T>C
ENST00000623781.1:c.243A>G	ENSP00000485381.1:p.Pro81=
ENST00000632727.1:c.74T>C (HBG1)	ENSP00000488759.1:p.Met25Thr
NM_000559.2:c.112T>C (HBG1)	NP_000550.2:p.Trp38Arg
NM_000559.3:c.112T>C (HBG1) MANE Select	NP_000550.2:p.Trp38Arg