Canonical Allele Identifier: CA597436135
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1124679
ClinVar RCV Id: RCV001456151
dbSNP Id: rs372467642
gnomAD v2: 11-5248123-G-T
gnomAD v4: 11-5226893-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226893G>T , CM000673.2:g.5226893G>T GRCh38
NC_000011.9:g.5248123G>T , CM000673.1:g.5248123G>T GRCh37
NC_000011.8:g.5204699G>T NCBI36
NG_000007.3:g.70723C>A
NG_059281.1:g.5179C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.92+37C>A ENSP00000494175.1:n.92+37C>A
ENST00000335295.4:c.92+37C>A MANE Select ENSP00000333994.3:n.92+37C>A
ENST00000380315.2:c.92+37C>A ENSP00000369671.2:n.92+37C>A
ENST00000485743.1:n.143+37C>A
ENST00000633227.1:c.76+53C>A ENSP00000488004.1:n.76+53C>A
NM_000518.4:c.92+37C>A NP_000509.1:n.92+37C>A
NM_000518.5:c.92+37C>A MANE Select NP_000509.1:n.92+37C>A