Canonical Allele Identifier: CA217112911

Gene: HBB

Linked Data

• ClinVar Variation Id: 2742971
• ClinVar RCV Id: RCV003558184
• dbSNP Id: rs990408905
• gnomAD v4: 11-5225750-T-C
• MyVariant Identifiers: chr11:g.5246980T>C (hg19) ; chr11:g.5225750T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225750T>C , CM000673.2:g.5225750T>C	GRCh38
NC_000011.9:g.5246980T>C , CM000673.1:g.5246980T>C	GRCh37
NC_000011.8:g.5203556T>C	NCBI36
NG_000007.3:g.71866A>G
NG_059281.1:g.6322A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-24A>G	ENSP00000494175.1:n.316-24A>G
ENST00000335295.4:c.316-24A>G MANE Select	ENSP00000333994.3:n.316-24A>G
ENST00000475226.1:n.248-24A>G
ENST00000633227.1:c.*132-24A>G	ENSP00000488004.1:n.*132-24A>G
NM_000518.4:c.316-24A>G	NP_000509.1:n.316-24A>G
NM_000518.5:c.316-24A>G MANE Select	NP_000509.1:n.316-24A>G