Canonical Allele Identifier: CA5839809

Gene: HBB

Linked Data

• ClinVar Variation Id: 869245
• ClinVar RCV Id: RCV001078280 ; RCV001438297
• dbSNP Id: rs753444453
• ExAC: 11:5248147 C / A
• gnomAD v2: 11-5248147-C-A
• MyVariant Identifiers: chr11:g.5248147C>A (hg19) ; chr11:g.5226917C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5226917C>A , CM000673.2:g.5226917C>A	GRCh38
NC_000011.9:g.5248147C>A , CM000673.1:g.5248147C>A	GRCh37
NC_000011.8:g.5204723C>A	NCBI36
NG_000007.3:g.70699G>T
NG_059281.1:g.5155G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.92+13G>T	ENSP00000494175.1:n.92+13G>T
ENST00000335295.4:c.92+13G>T MANE Select	ENSP00000333994.3:n.92+13G>T
ENST00000380315.2:c.92+13G>T	ENSP00000369671.2:n.92+13G>T
ENST00000485743.1:n.143+13G>T
ENST00000633227.1:c.76+29G>T	ENSP00000488004.1:n.76+29G>T
NM_000518.4:c.92+13G>T	NP_000509.1:n.92+13G>T
NM_000518.5:c.92+13G>T MANE Select	NP_000509.1:n.92+13G>T