Canonical Allele Identifier: CA379263336

Gene: HBG1 HBG2

Linked Data

• dbSNP Id: rs1349470961
• gnomAD v2: 11-5271038-G-A
• gnomAD v3: 11-5249808-G-A
• gnomAD v4: 11-5249808-G-A
• MyVariant Identifiers: chr11:g.5271038G>A (hg19) ; chr11:g.5249808G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249808G>A , CM000673.2:g.5249808G>A	GRCh38
NC_000011.9:g.5271038G>A , CM000673.1:g.5271038G>A	GRCh37
NC_000011.8:g.5227614G>A	NCBI36
NG_000007.3:g.47808C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000330597.5:c.-4C>T (HBG1) MANE Select	ENSP00000327431.4:n.-4C>T
ENST00000642908.1:c.316-1321C>T	ENSP00000495346.1:n.316-1321C>T
ENST00000647543.1:c.379-1321C>T	ENSP00000496470.1:n.379-1321C>T
ENST00000648735.1:n.48C>T (HBG1)
ENST00000330597.3:c.-4C>T (HBG1)	ENSP00000327431.3:n.-4C>T
ENST00000620888.4:c.316-1321C>T (HBG2)	ENSP00000479637.1:n.316-1321C>T
ENST00000623781.1:c.361G>A	ENSP00000485381.1:p.Val121Ile
ENST00000632727.1:c.-4C>T (HBG1)	ENSP00000488759.1:n.-4C>T
NM_000559.2:c.-4C>T (HBG1)	NP_000550.2:n.-4C>T
NM_000559.3:c.-4C>T (HBG1) MANE Select	NP_000550.2:n.-4C>T