Canonical Allele Identifier: CA213889
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 36332
dbSNP Id: rs33978907
gnomAD v2: 11-5246718-A-G
gnomAD v3: 11-5225488-A-G
gnomAD v4: 11-5225488-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225488A>G , CM000673.2:g.5225488A>G GRCh38
NC_000011.9:g.5246718A>G , CM000673.1:g.5246718A>G GRCh37
NC_000011.8:g.5203294A>G NCBI36
NG_000007.3:g.72128T>C
NG_059281.1:g.6584T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.*110T>C ENSP00000494175.1:n.*110T>C
ENST00000335295.4:c.*110T>C MANE Select ENSP00000333994.3:n.*110T>C
ENST00000633227.1:c.*370T>C ENSP00000488004.1:n.*370T>C
NM_000518.4:c.*110T>C NP_000509.1:n.*110T>C
NM_000518.5:c.*110T>C MANE Select NP_000509.1:n.*110T>C