Canonical Allele Identifier: CA597217539

Gene: HBB

Linked Data

• ClinVar Variation Id: 801187
• ClinVar RCV Id: RCV000985746 ; RCV002222650
• dbSNP Id: rs1184042209
• gnomAD v2: 11-5247080-T-A
• gnomAD v3: 11-5225850-T-A
• gnomAD v4: 11-5225850-T-A
• MyVariant Identifiers: chr11:g.5247080T>A (hg19) ; chr11:g.5225850T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225850T>A , CM000673.2:g.5225850T>A	GRCh38
NC_000011.9:g.5247080T>A , CM000673.1:g.5247080T>A	GRCh37
NC_000011.8:g.5203656T>A	NCBI36
NG_000007.3:g.71766A>T
NG_059281.1:g.6222A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-124A>T	ENSP00000494175.1:n.316-124A>T
ENST00000335295.4:c.316-124A>T MANE Select	ENSP00000333994.3:n.316-124A>T
ENST00000475226.1:n.248-124A>T
ENST00000633227.1:c.*132-124A>T	ENSP00000488004.1:n.*132-124A>T
NM_000518.4:c.316-124A>T	NP_000509.1:n.316-124A>T
NM_000518.5:c.316-124A>T MANE Select	NP_000509.1:n.316-124A>T