Canonical Allele Identifier: CA379280224

Gene: HBG1 HBG2

Linked Data

• dbSNP Id: rs1589906450
• gnomAD v4: 11-5249559-A-C
• MyVariant Identifiers: chr11:g.5270789A>C (hg19) ; chr11:g.5249559A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249559A>C , CM000673.2:g.5249559A>C	GRCh38
NC_000011.9:g.5270789A>C , CM000673.1:g.5270789A>C	GRCh37
NC_000011.8:g.5227365A>C	NCBI36
NG_000007.3:g.48057T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.124T>G (HBG1) MANE Select	ENSP00000327431.4:p.Phe42Val
ENST00000642908.1:c.316-1072T>G	ENSP00000495346.1:n.316-1072T>G
ENST00000647543.1:c.379-1072T>G	ENSP00000496470.1:n.379-1072T>G
ENST00000648735.1:n.175T>G (HBG1)
ENST00000330597.3:c.124T>G (HBG1)	ENSP00000327431.3:p.Phe42Val
ENST00000620888.4:c.316-1072T>G (HBG2)	ENSP00000479637.1:n.316-1072T>G
ENST00000623781.1:c.231A>C	ENSP00000485381.1:p.Glu77Asp
ENST00000632727.1:c.86T>G (HBG1)	ENSP00000488759.1:p.Val29Gly
NM_000559.2:c.124T>G (HBG1)	NP_000550.2:p.Phe42Val
NM_000559.3:c.124T>G (HBG1) MANE Select	NP_000550.2:p.Phe42Val