Canonical Allele Identifier: CA5839768

Gene: HBB

Linked Data

• ClinVar Variation Id: 439166
• ClinVar RCV Id: RCV000506434 ; RCV000016769 ; RCV001078336 ; RCV001375484
• dbSNP Id: rs33943001
• ExAC: 11:5248030 C / G
• gnomAD v2: 11-5248030-C-G
• gnomAD v3: 11-5226800-C-G
• gnomAD v4: 11-5226800-C-G
• MyVariant Identifiers: chr11:g.5248030C>G (hg19) ; chr11:g.5226800C>G (hg38)
• PubMed: PMID:1577489 ; PMID:23510507 ; PMID:26182339 ; PMID:27828729

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226800C>G , CM000673.2:g.5226800C>G	GRCh38
NC_000011.9:g.5248030C>G , CM000673.1:g.5248030C>G	GRCh37
NC_000011.8:g.5204606C>G	NCBI36
NG_000007.3:g.70816G>C
NG_059281.1:g.5272G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.93-1G>C	ENSP00000494175.1:n.93-1G>C
ENST00000335295.4:c.93-1G>C MANE Select	ENSP00000333994.3:n.93-1G>C
ENST00000380315.2:c.93-1G>C	ENSP00000369671.2:n.93-1G>C
ENST00000475226.1:n.24G>C
ENST00000485743.1:n.144-1G>C
ENST00000633227.1:c.77-1G>C	ENSP00000488004.1:n.77-1G>C
NM_000518.4:c.93-1G>C	NP_000509.1:n.93-1G>C
NM_000518.5:c.93-1G>C MANE Select	NP_000509.1:n.93-1G>C