Canonical Allele Identifier: CA5839800
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1108115
ClinVar RCV Id: RCV001433464
dbSNP Id: rs372778054
gnomAD v2: 11-5248112-C-T
gnomAD v4: 11-5226882-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226882C>T , CM000673.2:g.5226882C>T GRCh38
NC_000011.9:g.5248112C>T , CM000673.1:g.5248112C>T GRCh37
NC_000011.8:g.5204688C>T NCBI36
NG_000007.3:g.70734G>A
NG_059281.1:g.5190G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.92+48G>A ENSP00000494175.1:n.92+48G>A
ENST00000335295.4:c.92+48G>A MANE Select ENSP00000333994.3:n.92+48G>A
ENST00000380315.2:c.92+48G>A ENSP00000369671.2:n.92+48G>A
ENST00000485743.1:n.143+48G>A
ENST00000633227.1:c.76+64G>A ENSP00000488004.1:n.76+64G>A
NM_000518.4:c.92+48G>A NP_000509.1:n.92+48G>A
NM_000518.5:c.92+48G>A MANE Select NP_000509.1:n.92+48G>A