Canonical Allele Identifier: CA5839736
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1531458
ClinVar RCV Id: RCV002092468
dbSNP Id: rs35209591
ExAC: 11:5247816 C / T
gnomAD v2: 11-5247816-C-T
gnomAD v3: 11-5226586-C-T
gnomAD v4: 11-5226586-C-T
MyVariant Identifiers: chr11:g.5247816C>T (hg19) chr11:g.5226586C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226586C>T , CM000673.2:g.5226586C>T GRCh38
NC_000011.9:g.5247816C>T , CM000673.1:g.5247816C>T GRCh37
NC_000011.8:g.5204392C>T NCBI36
NG_000007.3:g.71030G>A
NG_059281.1:g.5486G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.306G>A ENSP00000494175.1:p.Glu102=
ENST00000335295.4:c.306G>A MANE Select ENSP00000333994.3:p.Glu102=
ENST00000475226.1:n.238G>A
ENST00000485743.1:n.357G>A
ENST00000633227.1:c.*122G>A ENSP00000488004.1:n.*122G>A
NM_000518.4:c.306G>A NP_000509.1:p.Glu102=
NM_000518.5:c.306G>A MANE Select NP_000509.1:p.Glu102=
Search 100 bp 5'
Search 100 bp 3'