Canonical Allele Identifier: CA217114264

Gene: HBB

Linked Data

• ClinVar Variation Id: 619854
• ClinVar RCV Id: RCV000759792 ; RCV002282357 ; RCV002507331
• dbSNP Id: rs33935983
• gnomAD v2: 11-5247953-C-T
• gnomAD v3: 11-5226723-C-T
• gnomAD v4: 11-5226723-C-T
• MyVariant Identifiers: chr11:g.5247953C>T (hg19) ; chr11:g.5226723C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226723C>T , CM000673.2:g.5226723C>T	GRCh38
NC_000011.9:g.5247953C>T , CM000673.1:g.5247953C>T	GRCh37
NC_000011.8:g.5204529C>T	NCBI36
NG_000007.3:g.70893G>A
NG_059281.1:g.5349G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.169G>A	ENSP00000494175.1:p.Gly57Ser
ENST00000335295.4:c.169G>A MANE Select	ENSP00000333994.3:p.Gly57Ser
ENST00000380315.2:c.169G>A	ENSP00000369671.2:p.Gly57Ser
ENST00000475226.1:n.101G>A
ENST00000485743.1:n.220G>A
ENST00000633227.1:c.153G>A	ENSP00000488004.1:p.Trp51Ter
NM_000518.4:c.169G>A	NP_000509.1:p.Gly57Ser
NM_000518.5:c.169G>A MANE Select	NP_000509.1:p.Gly57Ser