Canonical Allele Identifier: CA472885844

Gene: HBB

Linked Data

• ClinVar Variation Id: 1669251
• ClinVar RCV Id: RCV002198339
• dbSNP Id: rs373379910
• MyVariant Identifiers: chr11:g.5248174A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226944A>G , CM000673.2:g.5226944A>G	GRCh38
NC_000011.9:g.5248174A>G , CM000673.1:g.5248174A>G	GRCh37
NC_000011.8:g.5204750A>G	NCBI36
NG_000007.3:g.70672T>C
NG_059281.1:g.5128T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.78T>C	ENSP00000494175.1:p.Gly26=
ENST00000335295.4:c.78T>C MANE Select	ENSP00000333994.3:p.Gly26=
ENST00000380315.2:c.78T>C	ENSP00000369671.2:p.Gly26=
ENST00000485743.1:n.129T>C
ENST00000633227.1:c.76+2T>C	ENSP00000488004.1:n.76+2T>C
NM_000518.4:c.78T>C	NP_000509.1:p.Gly26=
NM_000518.5:c.78T>C MANE Select	NP_000509.1:p.Gly26=