Canonical Allele Identifier: CA5840172

Gene: HBG1 HBG2

Linked Data

• dbSNP Id: rs537552941
• ExAC: 11:5270903 G / T
• gnomAD v2: 11-5270903-G-T
• gnomAD v3: 11-5249673-G-T
• gnomAD v4: 11-5249673-G-T
• MyVariant Identifiers: chr11:g.5270903G>T (hg19) ; chr11:g.5249673G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5249673G>T , CM000673.2:g.5249673G>T	GRCh38
NC_000011.9:g.5270903G>T , CM000673.1:g.5270903G>T	GRCh37
NC_000011.8:g.5227479G>T	NCBI36
NG_000007.3:g.47943C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330597.5:c.92+40C>A (HBG1) MANE Select	ENSP00000327431.4:n.92+40C>A
ENST00000642908.1:c.316-1186C>A	ENSP00000495346.1:n.316-1186C>A
ENST00000647543.1:c.379-1186C>A	ENSP00000496470.1:n.379-1186C>A
ENST00000648735.1:n.143+40C>A (HBG1)
ENST00000330597.3:c.92+40C>A (HBG1)	ENSP00000327431.3:n.92+40C>A
ENST00000620888.4:c.316-1186C>A (HBG2)	ENSP00000479637.1:n.316-1186C>A
ENST00000623781.1:c.265-39G>T	ENSP00000485381.1:n.265-39G>T
ENST00000632727.1:c.54+78C>A (HBG1)	ENSP00000488759.1:n.54+78C>A
NM_000559.2:c.92+40C>A (HBG1)	NP_000550.2:n.92+40C>A
NM_000559.3:c.92+40C>A (HBG1) MANE Select	NP_000550.2:n.92+40C>A