Canonical Allele Identifier: CA934688336

Gene: HBB

Linked Data

• ClinVar Variation Id: 2727125
• ClinVar RCV Id: RCV003557105
• dbSNP Id: rs1847577080
• gnomAD v3: 11-5226887-T-G
• gnomAD v4: 11-5226887-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226887T>G , CM000673.2:g.5226887T>G	GRCh38
NC_000011.9:g.5248117T>G , CM000673.1:g.5248117T>G	GRCh37
NC_000011.8:g.5204693T>G	NCBI36
NG_000007.3:g.70729A>C
NG_059281.1:g.5185A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.92+43A>C	ENSP00000494175.1:n.92+43A>C
ENST00000335295.4:c.92+43A>C MANE Select	ENSP00000333994.3:n.92+43A>C
ENST00000380315.2:c.92+43A>C	ENSP00000369671.2:n.92+43A>C
ENST00000485743.1:n.143+43A>C
ENST00000633227.1:c.76+59A>C	ENSP00000488004.1:n.76+59A>C
NM_000518.4:c.92+43A>C	NP_000509.1:n.92+43A>C
NM_000518.5:c.92+43A>C MANE Select	NP_000509.1:n.92+43A>C