Canonical Allele Identifier: CA934688333

Gene: HBB

Linked Data

• ClinVar Variation Id: 1127650
• ClinVar RCV Id: RCV001460154
• dbSNP Id: rs1847576718
• gnomAD v3: 11-5226877-A-G
• gnomAD v4: 11-5226877-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226877A>G , CM000673.2:g.5226877A>G	GRCh38
NC_000011.9:g.5248107A>G , CM000673.1:g.5248107A>G	GRCh37
NC_000011.8:g.5204683A>G	NCBI36
NG_000007.3:g.70739T>C
NG_059281.1:g.5195T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.92+53T>C	ENSP00000494175.1:n.92+53T>C
ENST00000335295.4:c.92+53T>C MANE Select	ENSP00000333994.3:n.92+53T>C
ENST00000380315.2:c.92+53T>C	ENSP00000369671.2:n.92+53T>C
ENST00000485743.1:n.143+53T>C
ENST00000633227.1:c.76+69T>C	ENSP00000488004.1:n.76+69T>C
NM_000518.4:c.92+53T>C	NP_000509.1:n.92+53T>C
NM_000518.5:c.92+53T>C MANE Select	NP_000509.1:n.92+53T>C