Canonical Allele Identifier: CA5839719

Gene: HBB

Linked Data

• ClinVar Variation Id: 811029
• ClinVar RCV Id: RCV001000578 ; RCV001428014
• dbSNP Id: rs771736852
• ExAC: 11:5246984 C / T
• gnomAD v2: 11-5246984-C-T
• gnomAD v3: 11-5225754-C-T
• gnomAD v4: 11-5225754-C-T
• MyVariant Identifiers: chr11:g.5246984C>T (hg19) ; chr11:g.5225754C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225754C>T , CM000673.2:g.5225754C>T	GRCh38
NC_000011.9:g.5246984C>T , CM000673.1:g.5246984C>T	GRCh37
NC_000011.8:g.5203560C>T	NCBI36
NG_000007.3:g.71862G>A
NG_059281.1:g.6318G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.316-28G>A	ENSP00000494175.1:n.316-28G>A
ENST00000335295.4:c.316-28G>A MANE Select	ENSP00000333994.3:n.316-28G>A
ENST00000475226.1:n.248-28G>A
ENST00000633227.1:c.*132-28G>A	ENSP00000488004.1:n.*132-28G>A
NM_000518.4:c.316-28G>A	NP_000509.1:n.316-28G>A
NM_000518.5:c.316-28G>A MANE Select	NP_000509.1:n.316-28G>A