Canonical Allele Identifier: CA472885751

Gene: HBB

Linked Data

• ClinVar Variation Id: 2573435
• ClinVar RCV Id: RCV003317771
• MyVariant Identifiers: chr11:g.5248240C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5227010C>T , CM000673.2:g.5227010C>T	GRCh38
NC_000011.9:g.5248240C>T , CM000673.1:g.5248240C>T	GRCh37
NC_000011.8:g.5204816C>T	NCBI36
NG_000007.3:g.70606G>A
NG_059281.1:g.5062G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647020.1:c.12G>A	ENSP00000494175.1:p.Leu4=
ENST00000335295.4:c.12G>A MANE Select	ENSP00000333994.3:p.Leu4=
ENST00000380315.2:c.12G>A	ENSP00000369671.2:p.Leu4=
ENST00000485743.1:n.63G>A
ENST00000633227.1:c.12G>A	ENSP00000488004.1:p.Leu4=
NM_000518.4:c.12G>A	NP_000509.1:p.Leu4=
NM_000518.5:c.12G>A MANE Select	NP_000509.1:p.Leu4=