Canonical Allele Identifier: CA379280008

Gene: HBG1 HBG2

Linked Data

• gnomAD v3: 11-5249484-T-G
• gnomAD v4: 11-5249484-T-G
• MyVariant Identifiers: chr11:g.5270714T>G (hg19) ; chr11:g.5249484T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249484T>G , CM000673.2:g.5249484T>G	GRCh38
NC_000011.9:g.5270714T>G , CM000673.1:g.5270714T>G	GRCh37
NC_000011.8:g.5227290T>G	NCBI36
NG_000007.3:g.48132A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.199A>C (HBG1) MANE Select	ENSP00000327431.4:p.Lys67Gln
ENST00000642908.1:c.316-997A>C	ENSP00000495346.1:n.316-997A>C
ENST00000647543.1:c.379-997A>C	ENSP00000496470.1:n.379-997A>C
ENST00000648735.1:n.250A>C (HBG1)
ENST00000330597.3:c.199A>C (HBG1)	ENSP00000327431.3:p.Lys67Gln
ENST00000620888.4:c.316-997A>C (HBG2)	ENSP00000479637.1:n.316-997A>C
ENST00000623781.1:c.156T>G	ENSP00000485381.1:p.Leu52=
ENST00000632727.1:c.*68A>C (HBG1)	ENSP00000488759.1:n.*68A>C
NM_000559.2:c.199A>C (HBG1)	NP_000550.2:p.Lys67Gln
NM_000559.3:c.199A>C (HBG1) MANE Select	NP_000550.2:p.Lys67Gln