Canonical Allele Identifier: CA379279992

Gene: HBG1 HBG2

Linked Data

• MyVariant Identifiers: chr11:g.5270708G>C (hg19) ; chr11:g.5249478G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249478G>C , CM000673.2:g.5249478G>C	GRCh38
NC_000011.9:g.5270708G>C , CM000673.1:g.5270708G>C	GRCh37
NC_000011.8:g.5227284G>C	NCBI36
NG_000007.3:g.48138C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.205C>G (HBG1) MANE Select	ENSP00000327431.4:p.Leu69Val
ENST00000642908.1:c.316-991C>G	ENSP00000495346.1:n.316-991C>G
ENST00000647543.1:c.379-991C>G	ENSP00000496470.1:n.379-991C>G
ENST00000648735.1:n.256C>G (HBG1)
ENST00000330597.3:c.205C>G (HBG1)	ENSP00000327431.3:p.Leu69Val
ENST00000620888.4:c.316-991C>G (HBG2)	ENSP00000479637.1:n.316-991C>G
ENST00000623781.1:c.150G>C	ENSP00000485381.1:p.Gln50His
ENST00000632727.1:c.*74C>G (HBG1)	ENSP00000488759.1:n.*74C>G
NM_000559.2:c.205C>G (HBG1)	NP_000550.2:p.Leu69Val
NM_000559.3:c.205C>G (HBG1) MANE Select	NP_000550.2:p.Leu69Val