Canonical Allele Identifier: CA217112977

Gene: HBB

Linked Data

• ClinVar Variation Id: 439149
• ClinVar RCV Id: RCV000508509 ; RCV001281704 ; RCV001078266 ; RCV004541579
• dbSNP Id: rs63751175
• gnomAD v2: 11-5247081-T-C
• gnomAD v3: 11-5225851-T-C
• gnomAD v4: 11-5225851-T-C
• MyVariant Identifiers: chr11:g.5247081T>C (hg19) ; chr11:g.5225851T>C (hg38)
• PubMed: PMID:17994377 ; PMID:18976160 ; PMID:20113284 ; PMID:21423179 ; PMID:24401016 ; PMID:27258795

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225851T>C , CM000673.2:g.5225851T>C	GRCh38
NC_000011.9:g.5247081T>C , CM000673.1:g.5247081T>C	GRCh37
NC_000011.8:g.5203657T>C	NCBI36
NG_000007.3:g.71765A>G
NG_059281.1:g.6221A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-125A>G	ENSP00000494175.1:n.316-125A>G
ENST00000335295.4:c.316-125A>G MANE Select	ENSP00000333994.3:n.316-125A>G
ENST00000475226.1:n.248-125A>G
ENST00000633227.1:c.*132-125A>G	ENSP00000488004.1:n.*132-125A>G
NM_000518.4:c.316-125A>G	NP_000509.1:n.316-125A>G
NM_000518.5:c.316-125A>G MANE Select	NP_000509.1:n.316-125A>G