Canonical Allele Identifier: CA5839812

Gene: HBB

Linked Data

• ClinVar Variation Id: 38682
• ClinVar RCV Id: RCV000588766 ; RCV001269729
• dbSNP Id: rs35578002
• ExAC: 11:5248162 G / A
• gnomAD v2: 11-5248162-G-A
• gnomAD v4: 11-5226932-G-A
• MyVariant Identifiers: chr11:g.5248162G>A (hg19) ; chr11:g.5226932G>A (hg38)
• PubMed: PMID:3828533 ; PMID:10776695 ; PMID:25677748

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226932G>A , CM000673.2:g.5226932G>A	GRCh38
NC_000011.9:g.5248162G>A , CM000673.1:g.5248162G>A	GRCh37
NC_000011.8:g.5204738G>A	NCBI36
NG_000007.3:g.70684C>T
NG_059281.1:g.5140C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.90C>T	ENSP00000494175.1:p.Gly30=
ENST00000335295.4:c.90C>T MANE Select	ENSP00000333994.3:p.Gly30=
ENST00000380315.2:c.90C>T	ENSP00000369671.2:p.Gly30=
ENST00000485743.1:n.141C>T
ENST00000633227.1:c.76+14C>T	ENSP00000488004.1:n.76+14C>T
NM_000518.4:c.90C>T	NP_000509.1:p.Gly30=
NM_000518.5:c.90C>T MANE Select	NP_000509.1:p.Gly30=