Canonical Allele Identifier: CA379279973

Gene: HBG1 HBG2

Linked Data

• gnomAD v4: 11-5249471-G-A
• COSMIC: COSM5591227
• MyVariant Identifiers: chr11:g.5270701G>A (hg19) ; chr11:g.5249471G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249471G>A , CM000673.2:g.5249471G>A	GRCh38
NC_000011.9:g.5270701G>A , CM000673.1:g.5270701G>A	GRCh37
NC_000011.8:g.5227277G>A	NCBI36
NG_000007.3:g.48145C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.212C>T (HBG1) MANE Select	ENSP00000327431.4:p.Ser71Phe
ENST00000642908.1:c.316-984C>T	ENSP00000495346.1:n.316-984C>T
ENST00000647543.1:c.379-984C>T	ENSP00000496470.1:n.379-984C>T
ENST00000648735.1:n.263C>T (HBG1)
ENST00000330597.3:c.212C>T (HBG1)	ENSP00000327431.3:p.Ser71Phe
ENST00000620888.4:c.316-984C>T (HBG2)	ENSP00000479637.1:n.316-984C>T
ENST00000623781.1:c.143G>A	ENSP00000485381.1:p.Gly48Glu
ENST00000632727.1:c.*81C>T (HBG1)	ENSP00000488759.1:n.*81C>T
NM_000559.2:c.212C>T (HBG1)	NP_000550.2:p.Ser71Phe
NM_000559.3:c.212C>T (HBG1) MANE Select	NP_000550.2:p.Ser71Phe