Canonical Allele Identifier: CA125303
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15436
dbSNP Id: rs33971440
gnomAD v2: 11-5248159-C-T
gnomAD v3: 11-5226929-C-T
gnomAD v4: 11-5226929-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226929C>T , CM000673.2:g.5226929C>T GRCh38
NC_000011.9:g.5248159C>T , CM000673.1:g.5248159C>T GRCh37
NC_000011.8:g.5204735C>T NCBI36
NG_000007.3:g.70687G>A
NG_059281.1:g.5143G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.92+1G>A ENSP00000494175.1:n.92+1G>A
ENST00000335295.4:c.92+1G>A MANE Select ENSP00000333994.3:n.92+1G>A
ENST00000380315.2:c.92+1G>A ENSP00000369671.2:n.92+1G>A
ENST00000485743.1:n.143+1G>A
ENST00000633227.1:c.76+17G>A ENSP00000488004.1:n.76+17G>A
NM_000518.4:c.92+1G>A NP_000509.1:n.92+1G>A
NM_000518.5:c.92+1G>A MANE Select NP_000509.1:n.92+1G>A