Canonical Allele Identifier: CA346836

Gene: HBB

Linked Data

• ClinVar Variation Id: 189128
• ClinVar RCV Id: RCV000169544 ; RCV001850405
• dbSNP Id: rs33945777
• gnomAD v4: 11-5226576-C-G
• MyVariant Identifiers: chr11:g.5247806C>G (hg19) ; chr11:g.5226576C>G (hg38)
• PubMed: PMID:8718703

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226576C>G , CM000673.2:g.5226576C>G	GRCh38
NC_000011.9:g.5247806C>G , CM000673.1:g.5247806C>G	GRCh37
NC_000011.8:g.5204382C>G	NCBI36
NG_000007.3:g.71040G>C
NG_059281.1:g.5496G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.315+1G>C	ENSP00000494175.1:n.315+1G>C
ENST00000335295.4:c.315+1G>C MANE Select	ENSP00000333994.3:n.315+1G>C
ENST00000475226.1:n.247+1G>C
ENST00000485743.1:n.367G>C
ENST00000633227.1:c.*131+1G>C	ENSP00000488004.1:n.*131+1G>C
NM_000518.4:c.315+1G>C	NP_000509.1:n.315+1G>C
NM_000518.5:c.315+1G>C MANE Select	NP_000509.1:n.315+1G>C