Canonical Allele Identifier: CA125315

Gene: HBB

Linked Data

• ClinVar Variation Id: 15454
• ClinVar RCV Id: RCV000016712 ; RCV000020343 ; RCV000030008 ; RCV000763251 ; RCV001004346 ; RCV000799079 ; RCV001262998 ; RCV002371775 ; RCV002288504 ; RCV003989289
• dbSNP Id: rs35004220
• ExAC: 11:5248050 C / T
• gnomAD v2: 11-5248050-C-T
• gnomAD v3: 11-5226820-C-T
• gnomAD v4: 11-5226820-C-T
• MyVariant Identifiers: chr11:g.5248050C>T (hg19) ; chr11:g.5226820C>T (hg38)
• PubMed: PMID:1390250 ; PMID:1967205 ; PMID:2200760 ; PMID:6264391 ; PMID:6264477 ; PMID:7312624 ; PMID:8330981 ; PMID:20301599 ; PMID:28667000

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226820C>T , CM000673.2:g.5226820C>T	GRCh38
NC_000011.9:g.5248050C>T , CM000673.1:g.5248050C>T	GRCh37
NC_000011.8:g.5204626C>T	NCBI36
NG_000007.3:g.70796G>A
NG_059281.1:g.5252G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.93-21G>A	ENSP00000494175.1:n.93-21G>A
ENST00000335295.4:c.93-21G>A MANE Select	ENSP00000333994.3:n.93-21G>A
ENST00000380315.2:c.93-21G>A	ENSP00000369671.2:n.93-21G>A
ENST00000475226.1:n.4G>A
ENST00000485743.1:n.144-21G>A
ENST00000633227.1:c.77-21G>A	ENSP00000488004.1:n.77-21G>A
NM_000518.4:c.93-21G>A	NP_000509.1:n.93-21G>A
NM_000518.5:c.93-21G>A MANE Select	NP_000509.1:n.93-21G>A