Canonical Allele Identifier: CA213889

Gene: HBB

Linked Data

• ClinVar Variation Id: 36332
• ClinVar RCV Id: RCV000016730 ; RCV000445649 ; RCV000506540 ; RCV001004557
• dbSNP Id: rs33978907
• gnomAD v2: 11-5246718-A-G
• gnomAD v3: 11-5225488-A-G
• gnomAD v4: 11-5225488-A-G
• MyVariant Identifiers: chr11:g.5246718A>G (hg19) ; chr11:g.5225488A>G (hg38)
• PubMed: PMID:4018033 ; PMID:20301599 ; PMID:21119755 ; PMID:22335963 ; PMID:22690826 ; PMID:23590658

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225488A>G , CM000673.2:g.5225488A>G	GRCh38
NC_000011.9:g.5246718A>G , CM000673.1:g.5246718A>G	GRCh37
NC_000011.8:g.5203294A>G	NCBI36
NG_000007.3:g.72128T>C
NG_059281.1:g.6584T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.*110T>C	ENSP00000494175.1:n.*110T>C
ENST00000335295.4:c.*110T>C MANE Select	ENSP00000333994.3:n.*110T>C
ENST00000633227.1:c.*370T>C	ENSP00000488004.1:n.*370T>C
NM_000518.4:c.*110T>C	NP_000509.1:n.*110T>C
NM_000518.5:c.*110T>C MANE Select	NP_000509.1:n.*110T>C