Canonical Allele Identifier: CA342870
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 36327
dbSNP Id: rs113082294
gnomAD v2: 11-5246870-C-G
gnomAD v3: 11-5225640-C-G
gnomAD v4: 11-5225640-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225640C>G , CM000673.2:g.5225640C>G GRCh38
NC_000011.9:g.5246870C>G , CM000673.1:g.5246870C>G GRCh37
NC_000011.8:g.5203446C>G NCBI36
NG_000007.3:g.71976G>C
NG_059281.1:g.6432G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.402G>C ENSP00000494175.1:p.Val134=
ENST00000335295.4:c.402G>C MANE Select ENSP00000333994.3:p.Val134=
ENST00000633227.1:c.*218G>C ENSP00000488004.1:n.*218G>C
NM_000518.4:c.402G>C NP_000509.1:p.Val134=
NM_000518.5:c.402G>C MANE Select NP_000509.1:p.Val134=