Canonical Allele Identifier: CA342879

Gene: HBB

Linked Data

• ClinVar Variation Id: 36340
• ClinVar RCV Id: RCV000030010 ; RCV000860961
• dbSNP Id: rs111851677
• ExAC: 11:5248052 A / G
• gnomAD v2: 11-5248052-A-G
• gnomAD v3: 11-5226822-A-G
• gnomAD v4: 11-5226822-A-G
• MyVariant Identifiers: chr11:g.5248052A>G (hg19) ; chr11:g.5226822A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226822A>G , CM000673.2:g.5226822A>G	GRCh38
NC_000011.9:g.5248052A>G , CM000673.1:g.5248052A>G	GRCh37
NC_000011.8:g.5204628A>G	NCBI36
NG_000007.3:g.70794T>C
NG_059281.1:g.5250T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.93-23T>C	ENSP00000494175.1:n.93-23T>C
ENST00000335295.4:c.93-23T>C MANE Select	ENSP00000333994.3:n.93-23T>C
ENST00000380315.2:c.93-23T>C	ENSP00000369671.2:n.93-23T>C
ENST00000475226.1:n.2T>C
ENST00000485743.1:n.144-23T>C
ENST00000633227.1:c.77-23T>C	ENSP00000488004.1:n.77-23T>C
NM_000518.4:c.93-23T>C	NP_000509.1:n.93-23T>C
NM_000518.5:c.93-23T>C MANE Select	NP_000509.1:n.93-23T>C