Canonical Allele Identifier: CA341711
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 21191
dbSNP Id: rs33914668
gnomAD v2: 11-5246958-T-C
gnomAD v3: 11-5225728-T-C
gnomAD v4: 11-5225728-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225728T>C , CM000673.2:g.5225728T>C GRCh38
NC_000011.9:g.5246958T>C , CM000673.1:g.5246958T>C GRCh37
NC_000011.8:g.5203534T>C NCBI36
NG_000007.3:g.71888A>G
NG_059281.1:g.6344A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.316-2A>G ENSP00000494175.1:n.316-2A>G
ENST00000335295.4:c.316-2A>G MANE Select ENSP00000333994.3:n.316-2A>G
ENST00000475226.1:n.248-2A>G
ENST00000633227.1:c.*132-2A>G ENSP00000488004.1:n.*132-2A>G
NM_000518.4:c.316-2A>G NP_000509.1:n.316-2A>G
NM_000518.5:c.316-2A>G MANE Select NP_000509.1:n.316-2A>G