Canonical Allele Identifier: CA5839767
Gene: HBB HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.5226798G>A
GRCh37 chr11:g.5248028G>A
gnomAD v2:
11:5248028 G / A
gnomAD v3:
11:5226798 G / A
gnomAD v4:
chr11-5226798-G-A
Joint Max Group AF 0.00001063 (AFR)
Genomes Max Group AF 0.00001919 (AFR)
Exomes Max Group AF 7.2e-7 (NFE)
dbSNP:
33956555
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226798G>A , CM000673.2:g.5226798G>A GRCh38
NC_000011.9:g.5248028G>A , CM000673.1:g.5248028G>A GRCh37
NC_000011.8:g.5204604G>A NCBI36
NG_000007.3:g.70818C>T
NG_059281.1:g.5274C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.94C>T ENSP00000494175.1:p.Leu32=
ENST00000335295.4:c.94C>T MANE Select ENSP00000333994.3:p.Leu32=
ENST00000380315.2:c.94C>T ENSP00000369671.2:p.Leu32=
ENST00000475226.1:n.26C>T
ENST00000485743.1:n.145C>T
ENST00000633227.1:c.78C>T ENSP00000488004.1:p.Gly26=
NM_000518.4:c.94C>T NP_000509.1:p.Leu32=
NM_000518.5:c.94C>T MANE Select NP_000509.1:p.Leu32=
Search 100 bp 5'
Search 100 bp 3'