Canonical Allele Identifier: CA472885675
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1140182
ClinVar RCV Id: RCV001477147
dbSNP Id: rs768336186
gnomAD v2: 11-5247819-A-C
gnomAD v4: 11-5226589-A-C
MyVariant Identifiers: chr11:g.5247819A>C (hg19) chr11:g.5226589A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226589A>C , CM000673.2:g.5226589A>C GRCh38
NC_000011.9:g.5247819A>C , CM000673.1:g.5247819A>C GRCh37
NC_000011.8:g.5204395A>C NCBI36
NG_000007.3:g.71027T>G
NG_059281.1:g.5483T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.303T>G ENSP00000494175.1:p.Pro101=
ENST00000335295.4:c.303T>G MANE Select ENSP00000333994.3:p.Pro101=
ENST00000475226.1:n.235T>G
ENST00000485743.1:n.354T>G
ENST00000633227.1:c.*119T>G ENSP00000488004.1:n.*119T>G
NM_000518.4:c.303T>G NP_000509.1:p.Pro101=
NM_000518.5:c.303T>G MANE Select NP_000509.1:p.Pro101=
Search 100 bp 5'
Search 100 bp 3'