Canonical Allele Identifier: CA5839803
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1662829
ClinVar RCV Id: RCV002186042
dbSNP Id: rs375672426
gnomAD v2: 11-5248120-A-G
gnomAD v3: 11-5226890-A-G
gnomAD v4: 11-5226890-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226890A>G , CM000673.2:g.5226890A>G GRCh38
NC_000011.9:g.5248120A>G , CM000673.1:g.5248120A>G GRCh37
NC_000011.8:g.5204696A>G NCBI36
NG_000007.3:g.70726T>C
NG_059281.1:g.5182T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.92+40T>C ENSP00000494175.1:n.92+40T>C
ENST00000335295.4:c.92+40T>C MANE Select ENSP00000333994.3:n.92+40T>C
ENST00000380315.2:c.92+40T>C ENSP00000369671.2:n.92+40T>C
ENST00000485743.1:n.143+40T>C
ENST00000633227.1:c.76+56T>C ENSP00000488004.1:n.76+56T>C
NM_000518.4:c.92+40T>C NP_000509.1:n.92+40T>C
NM_000518.5:c.92+40T>C MANE Select NP_000509.1:n.92+40T>C