Canonical Allele Identifier: CA934687494

Gene: HBB

Linked Data

• dbSNP Id: rs1847547444
• gnomAD v3: 11-5226487-C-G
• gnomAD v4: 11-5226487-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226487C>G , CM000673.2:g.5226487C>G	GRCh38
NC_000011.9:g.5247717C>G , CM000673.1:g.5247717C>G	GRCh37
NC_000011.8:g.5204293C>G	NCBI36
NG_000007.3:g.71129G>C
NG_059281.1:g.5585G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.315+90G>C	ENSP00000494175.1:n.315+90G>C
ENST00000335295.4:c.315+90G>C MANE Select	ENSP00000333994.3:n.315+90G>C
ENST00000475226.1:n.247+90G>C
ENST00000485743.1:n.456G>C
ENST00000633227.1:c.*131+90G>C	ENSP00000488004.1:n.*131+90G>C
NM_000518.4:c.315+90G>C	NP_000509.1:n.315+90G>C
NM_000518.5:c.315+90G>C MANE Select	NP_000509.1:n.315+90G>C