Canonical Allele Identifier: CA379279802

Gene: HBG1 HBG2

Linked Data

• dbSNP Id: rs1847921684
• gnomAD v4: 11-5249421-G-T
• MyVariant Identifiers: chr11:g.5270651G>T (hg19) ; chr11:g.5249421G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249421G>T , CM000673.2:g.5249421G>T	GRCh38
NC_000011.9:g.5270651G>T , CM000673.1:g.5270651G>T	GRCh37
NC_000011.8:g.5227227G>T	NCBI36
NG_000007.3:g.48195C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.262C>A (HBG1) MANE Select	ENSP00000327431.4:p.Gln88Lys
ENST00000642908.1:c.316-934C>A	ENSP00000495346.1:n.316-934C>A
ENST00000647543.1:c.379-934C>A	ENSP00000496470.1:n.379-934C>A
ENST00000648735.1:n.313C>A (HBG1)
ENST00000330597.3:c.262C>A (HBG1)	ENSP00000327431.3:p.Gln88Lys
ENST00000620888.4:c.316-934C>A (HBG2)	ENSP00000479637.1:n.316-934C>A
ENST00000623781.1:c.93G>T	ENSP00000485381.1:p.Leu31=
ENST00000632727.1:c.*131C>A (HBG1)	ENSP00000488759.1:n.*131C>A
NM_000559.2:c.262C>A (HBG1)	NP_000550.2:p.Gln88Lys
NM_000559.3:c.262C>A (HBG1) MANE Select	NP_000550.2:p.Gln88Lys