Canonical Allele Identifier: CA217134354

Gene: HBG1 HBG2

Linked Data

• dbSNP Id: rs562553177
• gnomAD v3: 11-5249200-C-G
• gnomAD v4: 11-5249200-C-G
• MyVariant Identifiers: chr11:g.5270430C>G (hg19) ; chr11:g.5249200C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249200C>G , CM000673.2:g.5249200C>G	GRCh38
NC_000011.9:g.5270430C>G , CM000673.1:g.5270430C>G	GRCh37
NC_000011.8:g.5227006C>G	NCBI36
NG_000007.3:g.48416G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.315+168G>C (HBG1) MANE Select	ENSP00000327431.4:n.315+168G>C
ENST00000642908.1:c.316-713G>C	ENSP00000495346.1:n.316-713G>C
ENST00000647543.1:c.379-713G>C	ENSP00000496470.1:n.379-713G>C
ENST00000648735.1:n.534G>C (HBG1)
ENST00000330597.3:c.315+168G>C (HBG1)	ENSP00000327431.3:n.315+168G>C
ENST00000620888.4:c.316-713G>C (HBG2)	ENSP00000479637.1:n.316-713G>C
ENST00000623781.1:c.43-171C>G	ENSP00000485381.1:n.43-171C>G
ENST00000632727.1:c.*184+168G>C (HBG1)	ENSP00000488759.1:n.*184+168G>C
NM_000559.2:c.315+168G>C (HBG1)	NP_000550.2:n.315+168G>C
NM_000559.3:c.315+168G>C (HBG1) MANE Select	NP_000550.2:n.315+168G>C