Canonical Allele Identifier: CA379273639

Gene: HBB

Linked Data

• COSMIC: COSM320758
• MyVariant Identifiers: chr11:g.5246830A>T (hg19) ; chr11:g.5225600A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5225600A>T , CM000673.2:g.5225600A>T	GRCh38
NC_000011.9:g.5246830A>T , CM000673.1:g.5246830A>T	GRCh37
NC_000011.8:g.5203406A>T	NCBI36
NG_000007.3:g.72016T>A
NG_059281.1:g.6472T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.442T>A	ENSP00000494175.1:p.Ter148Lys
ENST00000335295.4:c.442T>A MANE Select	ENSP00000333994.3:p.Ter148Lys
ENST00000633227.1:c.*258T>A	ENSP00000488004.1:n.*258T>A
NM_000518.4:c.442T>A	NP_000509.1:p.Ter148Lys
NM_000518.5:c.442T>A MANE Select	NP_000509.1:p.Ter148Lys