Canonical Allele Identifier: CA379280292

Gene: HBG1 HBG2

Linked Data

• dbSNP Id: rs1343156232
• gnomAD v2: 11-5270813-C-T
• gnomAD v4: 11-5249583-C-T
• MyVariant Identifiers: chr11:g.5270813C>T (hg19) ; chr11:g.5249583C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249583C>T , CM000673.2:g.5249583C>T	GRCh38
NC_000011.9:g.5270813C>T , CM000673.1:g.5270813C>T	GRCh37
NC_000011.8:g.5227389C>T	NCBI36
NG_000007.3:g.48033G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.100G>A (HBG1) MANE Select	ENSP00000327431.4:p.Val34Ile
ENST00000642908.1:c.316-1096G>A	ENSP00000495346.1:n.316-1096G>A
ENST00000647543.1:c.379-1096G>A	ENSP00000496470.1:n.379-1096G>A
ENST00000648735.1:n.151G>A (HBG1)
ENST00000330597.3:c.100G>A (HBG1)	ENSP00000327431.3:p.Val34Ile
ENST00000620888.4:c.316-1096G>A (HBG2)	ENSP00000479637.1:n.316-1096G>A
ENST00000623781.1:c.255C>T	ENSP00000485381.1:p.Asn85=
ENST00000632727.1:c.62G>A (HBG1)	ENSP00000488759.1:p.Gly21Asp
NM_000559.2:c.100G>A (HBG1)	NP_000550.2:p.Val34Ile
NM_000559.3:c.100G>A (HBG1) MANE Select	NP_000550.2:p.Val34Ile