Canonical Allele Identifier: CA5839798
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1129240
ClinVar RCV Id: RCV001462334
dbSNP Id: rs377447760
gnomAD v2: 11-5248110-C-T
gnomAD v4: 11-5226880-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226880C>T , CM000673.2:g.5226880C>T GRCh38
NC_000011.9:g.5248110C>T , CM000673.1:g.5248110C>T GRCh37
NC_000011.8:g.5204686C>T NCBI36
NG_000007.3:g.70736G>A
NG_059281.1:g.5192G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.92+50G>A ENSP00000494175.1:n.92+50G>A
ENST00000335295.4:c.92+50G>A MANE Select ENSP00000333994.3:n.92+50G>A
ENST00000380315.2:c.92+50G>A ENSP00000369671.2:n.92+50G>A
ENST00000485743.1:n.143+50G>A
ENST00000633227.1:c.76+66G>A ENSP00000488004.1:n.76+66G>A
NM_000518.4:c.92+50G>A NP_000509.1:n.92+50G>A
NM_000518.5:c.92+50G>A MANE Select NP_000509.1:n.92+50G>A