Canonical Allele Identifier: CA217113329
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1126808
ClinVar RCV Id: RCV001458969
dbSNP Id: rs899975457
MyVariant Identifiers: chr11:g.5247707C>G (hg19) chr11:g.5226477C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226477C>G , CM000673.2:g.5226477C>G GRCh38
NC_000011.9:g.5247707C>G , CM000673.1:g.5247707C>G GRCh37
NC_000011.8:g.5204283C>G NCBI36
NG_000007.3:g.71139G>C
NG_059281.1:g.5595G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.315+100G>C ENSP00000494175.1:n.315+100G>C
ENST00000335295.4:c.315+100G>C MANE Select ENSP00000333994.3:n.315+100G>C
ENST00000475226.1:n.247+100G>C
ENST00000485743.1:n.466G>C
ENST00000633227.1:c.*131+100G>C ENSP00000488004.1:n.*131+100G>C
NM_000518.4:c.315+100G>C NP_000509.1:n.315+100G>C
NM_000518.5:c.315+100G>C MANE Select NP_000509.1:n.315+100G>C
Search 100 bp 5'
Search 100 bp 3'