Canonical Allele Identifier: CA5839737
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1152045
ClinVar RCV Id: RCV001493225
dbSNP Id: rs768336186
ExAC: 11:5247819 A / G
gnomAD v2: 11-5247819-A-G
gnomAD v4: 11-5226589-A-G
MyVariant Identifiers: chr11:g.5247819A>G (hg19) chr11:g.5226589A>G (hg38)
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Genomic Alleles

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

Transcript Alleles

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