Canonical Allele Identifier: CA472885835
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 928760
ClinVar RCV Id: RCV001193154
dbSNP Id: rs1191121382
gnomAD v4: 11-5226935-C-G
MyVariant Identifiers: chr11:g.5248165C>G (hg19)
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Genomic Alleles

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

Transcript Alleles

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