Canonical Allele Identifier: CA124578
Gene: HBG1 HGNC NCBI
HBG2 HGNC NCBI
COSMIC:
COSM4594163 (not active)
MyVariant.info:
GRCh38 chr11:g.5249456G>A
GRCh37 chr11:g.5270686G>A
Revel Score:
ENST00000330597 (MANE Select) 0.230
ENST00000380256 0.230
gnomAD v2:
11:5270686 G / A
gnomAD v3:
11:5249456 G / A
gnomAD v4:
chr11-5249456-G-A
Joint Max Group AF 0.81147411 (EAS)
Genomes Max Group AF 0.78965409 (EAS)
Exomes Max Group AF 0.81116798 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249456G>A , CM000673.2:g.5249456G>A GRCh38
NC_000011.9:g.5270686G>A , CM000673.1:g.5270686G>A GRCh37
NC_000011.8:g.5227262G>A NCBI36
NG_000007.3:g.48160C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330597.5:c.227C>T (HBG1) MANE Select ENSP00000327431.4:p.Thr76Ile
ENST00000642908.1:c.316-969C>T ENSP00000495346.1:n.316-969C>T
ENST00000647543.1:c.379-969C>T ENSP00000496470.1:n.379-969C>T
ENST00000648735.1:n.278C>T (HBG1)
ENST00000330597.3:c.227C>T (HBG1) ENSP00000327431.3:p.Thr76Ile
ENST00000620888.4:c.316-969C>T (HBG2) ENSP00000479637.1:n.316-969C>T
ENST00000623781.1:c.128G>A ENSP00000485381.1:p.Cys43Tyr
ENST00000632727.1:c.*96C>T (HBG1) ENSP00000488759.1:n.*96C>T
NM_000559.2:c.227C>T (HBG1) NP_000550.2:p.Thr76Ile
NM_000559.3:c.227C>T (HBG1) MANE Select NP_000550.2:p.Thr76Ile
Search 100 bp 5'
Search 100 bp 3'