Canonical Allele Identifier: CA472885836
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1671411
ClinVar RCV Id: RCV002198894
dbSNP Id: rs1191121382
gnomAD v4: 11-5226935-C-T
MyVariant Identifiers: chr11:g.5248165C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226935C>T , CM000673.2:g.5226935C>T GRCh38
NC_000011.9:g.5248165C>T , CM000673.1:g.5248165C>T GRCh37
NC_000011.8:g.5204741C>T NCBI36
NG_000007.3:g.70681G>A
NG_059281.1:g.5137G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.87G>A ENSP00000494175.1:p.Leu29=
ENST00000335295.4:c.87G>A MANE Select ENSP00000333994.3:p.Leu29=
ENST00000380315.2:c.87G>A ENSP00000369671.2:p.Leu29=
ENST00000485743.1:n.138G>A
ENST00000633227.1:c.76+11G>A ENSP00000488004.1:n.76+11G>A
NM_000518.4:c.87G>A NP_000509.1:p.Leu29=
NM_000518.5:c.87G>A MANE Select NP_000509.1:p.Leu29=
Search 100 bp 5'
Search 100 bp 3'