Canonical Allele Identifier: CA124894

Gene: HBB

Linked Data

• ClinVar Variation Id: 15192
• ClinVar RCV Id: RCV000016375 ; RCV000641462
• dbSNP Id: rs35067717
• MyVariant Identifiers: chr11:g.5247810G>C (hg19) ; chr11:g.5226580G>C (hg38)
• PubMed: PMID:4742453

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226580G>C , CM000673.2:g.5226580G>C	GRCh38
NC_000011.9:g.5247810G>C , CM000673.1:g.5247810G>C	GRCh37
NC_000011.8:g.5204386G>C	NCBI36
NG_000007.3:g.71036C>G
NG_059281.1:g.5492C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.312C>G	ENSP00000494175.1:p.Phe104Leu
ENST00000335295.4:c.312C>G MANE Select	ENSP00000333994.3:p.Phe104Leu
ENST00000475226.1:n.244C>G
ENST00000485743.1:n.363C>G
ENST00000633227.1:c.*128C>G	ENSP00000488004.1:n.*128C>G
NM_000518.4:c.312C>G	NP_000509.1:p.Phe104Leu
NM_000518.5:c.312C>G MANE Select	NP_000509.1:p.Phe104Leu