Canonical Allele Identifier: CA5839823

Gene: HBB

Linked Data

• ClinVar Variation Id: 619852
• ClinVar RCV Id: RCV000759789 ; RCV001175410 ; RCV001825504
• dbSNP Id: rs747545656
• ExAC: 11:5248261 T / C
• gnomAD v2: 11-5248261-T-C
• gnomAD v4: 11-5227031-T-C
• MyVariant Identifiers: chr11:g.5248261T>C (hg19) ; chr11:g.5227031T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227031T>C , CM000673.2:g.5227031T>C	GRCh38
NC_000011.9:g.5248261T>C , CM000673.1:g.5248261T>C	GRCh37
NC_000011.8:g.5204837T>C	NCBI36
NG_000007.3:g.70585A>G
NG_059281.1:g.5041A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.-10A>G	ENSP00000494175.1:n.-10A>G
ENST00000335295.4:c.-10A>G MANE Select	ENSP00000333994.3:n.-10A>G
ENST00000380315.2:c.-10A>G	ENSP00000369671.2:n.-10A>G
ENST00000485743.1:n.42A>G
ENST00000633227.1:c.-10A>G	ENSP00000488004.1:n.-10A>G
NM_000518.4:c.-10A>G	NP_000509.1:n.-10A>G
NM_000518.5:c.-10A>G MANE Select	NP_000509.1:n.-10A>G