Canonical Allele Identifier: CA217112125

Gene: HBB

Linked Data

• ClinVar Variation Id: 495968
• ClinVar RCV Id: RCV000588701 ; RCV000855595
• dbSNP Id: rs537944366
• gnomAD v2: 11-5246772-T-C
• gnomAD v3: 11-5225542-T-C
• gnomAD v4: 11-5225542-T-C
• MyVariant Identifiers: chr11:g.5246772T>C (hg19) ; chr11:g.5225542T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225542T>C , CM000673.2:g.5225542T>C	GRCh38
NC_000011.9:g.5246772T>C , CM000673.1:g.5246772T>C	GRCh37
NC_000011.8:g.5203348T>C	NCBI36
NG_000007.3:g.72074A>G
NG_059281.1:g.6530A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647020.1:c.*56A>G	ENSP00000494175.1:n.*56A>G
ENST00000335295.4:c.*56A>G MANE Select	ENSP00000333994.3:n.*56A>G
ENST00000633227.1:c.*316A>G	ENSP00000488004.1:n.*316A>G
NM_000518.4:c.*56A>G	NP_000509.1:n.*56A>G
NM_000518.5:c.*56A>G MANE Select	NP_000509.1:n.*56A>G