Canonical Allele Identifier: CA124588
Gene: HBG1 HGNC NCBI
HBG2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5249571A>C
GRCh37 chr11:g.5270801A>C
Revel Score:
ENST00000330597 (MANE Select) 0.473
ENST00000380256 0.473
gnomAD v2:
11:5270801 A / C
gnomAD v3:
11:5249571 A / C
gnomAD v4:
chr11-5249571-A-C
Joint Max Group AF 5.7e-7 (NFE)
Exomes Max Group AF 6e-7 (NFE)
ClinVar RCV:
RCV000016150
ClinVar Variation:
15010
dbSNP:
35700518
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249571A>C , CM000673.2:g.5249571A>C GRCh38
NC_000011.9:g.5270801A>C , CM000673.1:g.5270801A>C GRCh37
NC_000011.8:g.5227377A>C NCBI36
NG_000007.3:g.48045T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330597.5:c.112T>G (HBG1) MANE Select ENSP00000327431.4:p.Trp38Gly
ENST00000642908.1:c.316-1084T>G ENSP00000495346.1:n.316-1084T>G
ENST00000647543.1:c.379-1084T>G ENSP00000496470.1:n.379-1084T>G
ENST00000648735.1:n.163T>G (HBG1)
ENST00000330597.3:c.112T>G (HBG1) ENSP00000327431.3:p.Trp38Gly
ENST00000620888.4:c.316-1084T>G (HBG2) ENSP00000479637.1:n.316-1084T>G
ENST00000623781.1:c.243A>C ENSP00000485381.1:p.Pro81=
ENST00000632727.1:c.74T>G (HBG1) ENSP00000488759.1:p.Met25Arg
NM_000559.2:c.112T>G (HBG1) NP_000550.2:p.Trp38Gly
NM_000559.3:c.112T>G (HBG1) MANE Select NP_000550.2:p.Trp38Gly
Search 100 bp 5'
Search 100 bp 3'