Canonical Allele Identifier: CA124618

Gene: HBG1 HBG2

Linked Data

• ClinVar Variation Id: 15027
• ClinVar RCV Id: RCV000016168
• dbSNP Id: rs33965337
• MyVariant Identifiers: chr11:g.5270693C>G (hg19) ; chr11:g.5249463C>G (hg38)
• PubMed: PMID:2448269

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249463C>G , CM000673.2:g.5249463C>G	GRCh38
NC_000011.9:g.5270693C>G , CM000673.1:g.5270693C>G	GRCh37
NC_000011.8:g.5227269C>G	NCBI36
NG_000007.3:g.48153G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.220G>C (HBG1) MANE Select	ENSP00000327431.4:p.Asp74His
ENST00000642908.1:c.316-976G>C	ENSP00000495346.1:n.316-976G>C
ENST00000647543.1:c.379-976G>C	ENSP00000496470.1:n.379-976G>C
ENST00000648735.1:n.271G>C (HBG1)
ENST00000330597.3:c.220G>C (HBG1)	ENSP00000327431.3:p.Asp74His
ENST00000620888.4:c.316-976G>C (HBG2)	ENSP00000479637.1:n.316-976G>C
ENST00000623781.1:c.135C>G	ENSP00000485381.1:p.Ile45Met
ENST00000632727.1:c.*89G>C (HBG1)	ENSP00000488759.1:n.*89G>C
NM_000559.2:c.220G>C (HBG1)	NP_000550.2:p.Asp74His
NM_000559.3:c.220G>C (HBG1) MANE Select	NP_000550.2:p.Asp74His