Canonical Allele Identifier: CA342845

Gene: HBB

Linked Data

• ClinVar Variation Id: 36292
• ClinVar RCV Id: RCV000029957 ; RCV000508619 ; RCV001838527
• dbSNP Id: rs34305195
• ExAC: 11:5248301 T / G
• gnomAD v2: 11-5248301-T-G
• gnomAD v3: 11-5227071-T-G
• gnomAD v4: 11-5227071-T-G
• MyVariant Identifiers: chr11:g.5248301T>G (hg19) ; chr11:g.5227071T>G (hg38)
• PubMed: PMID:3683554 ; PMID:20301599 ; PMID:22335963 ; PMID:22392582 ; PMID:22975760 ; PMID:23162295 ; PMID:27263053

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227071T>G , CM000673.2:g.5227071T>G	GRCh38
NC_000011.9:g.5248301T>G , CM000673.1:g.5248301T>G	GRCh37
NC_000011.8:g.5204877T>G	NCBI36
NG_000007.3:g.70545A>C
NG_059281.1:g.5001A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.-50A>C	ENSP00000494175.1:n.-50A>C
ENST00000335295.4:c.-50A>C MANE Select	ENSP00000333994.3:n.-50A>C
ENST00000380315.2:c.-18-32A>C	ENSP00000369671.2:n.-18-32A>C
ENST00000485743.1:n.2A>C
ENST00000633227.1:c.-50A>C	ENSP00000488004.1:n.-50A>C
NM_000518.4:c.-50A>C	NP_000509.1:n.-50A>C
NM_000518.5:c.-50A>C MANE Select	NP_000509.1:n.-50A>C