Canonical Allele Identifier: CA125313
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15450
dbSNP Id: rs35724775
gnomAD v2: 11-5248154-A-G
gnomAD v3: 11-5226924-A-G
gnomAD v4: 11-5226924-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226924A>G , CM000673.2:g.5226924A>G GRCh38
NC_000011.9:g.5248154A>G , CM000673.1:g.5248154A>G GRCh37
NC_000011.8:g.5204730A>G NCBI36
NG_000007.3:g.70692T>C
NG_059281.1:g.5148T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.92+6T>C ENSP00000494175.1:n.92+6T>C
ENST00000335295.4:c.92+6T>C MANE Select ENSP00000333994.3:n.92+6T>C
ENST00000380315.2:c.92+6T>C ENSP00000369671.2:n.92+6T>C
ENST00000485743.1:n.143+6T>C
ENST00000633227.1:c.76+22T>C ENSP00000488004.1:n.76+22T>C
NM_000518.4:c.92+6T>C NP_000509.1:n.92+6T>C
NM_000518.5:c.92+6T>C MANE Select NP_000509.1:n.92+6T>C