Canonical Allele Identifier: CA035916
Gene: HBG1 HGNC NCBI
HBG2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5248393G>C
GRCh37 chr11:g.5269623G>C
Revel Score:
ENST00000330597 (MANE Select) 0.203
ENST00000380256 0.005
gnomAD v2:
11:5269623 G / C
gnomAD v3:
11:5248393 G / C
gnomAD v4:
chr11-5248393-G-C
Joint Max Group AF 0.01848334 (AFR)
Genomes Max Group AF 0.0202665 (AFR)
Exomes Max Group AF 0.01550895 (AFR)
ClinVar RCV:
RCV002227183
ClinVar Variation:
478899
dbSNP:
56205611
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5248393G>C , CM000673.2:g.5248393G>C GRCh38
NC_000011.9:g.5269623G>C , CM000673.1:g.5269623G>C GRCh37
NC_000011.8:g.5226199G>C NCBI36
NG_000007.3:g.49223C>G
NG_063112.2:g.265C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330597.5:c.410C>G (HBG1) MANE Select ENSP00000327431.4:p.Ala137Gly
ENST00000642908.1:c.410C>G ENSP00000495346.1:p.Ala137Gly
ENST00000647543.1:c.473C>G ENSP00000496470.1:p.Ala158Gly
ENST00000648735.1:n.1341C>G (HBG1)
ENST00000330597.3:c.410C>G (HBG1) ENSP00000327431.3:p.Ala137Gly
ENST00000620888.4:c.410C>G (HBG2) ENSP00000479637.1:p.Ala137Gly
NM_000559.2:c.410C>G (HBG1) NP_000550.2:p.Ala137Gly
NM_000559.3:c.410C>G (HBG1) MANE Select NP_000550.2:p.Ala137Gly
Search 100 bp 5'
Search 100 bp 3'