Canonical Allele Identifier: CA5839811

Gene: HBB

Linked Data

• ClinVar Variation Id: 748718
• ClinVar RCV Id: RCV000925535
• dbSNP Id: rs35578002
• ExAC: 11:5248162 G / T
• gnomAD v2: 11-5248162-G-T
• gnomAD v3: 11-5226932-G-T
• gnomAD v4: 11-5226932-G-T
• MyVariant Identifiers: chr11:g.5248162G>T (hg19) ; chr11:g.5226932G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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