Canonical Allele Identifier: CA1584798283

Gene: TGFBI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136056737T= , CM000667.2:g.136056737T=	GRCh38
NC_000005.9:g.135392426T= , CM000667.1:g.135392426T=	GRCh37
NC_000005.8:g.135420325T=	NCBI36
NG_012646.1:g.32843T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000442011.7:c.1620T= MANE Select	ENSP00000416330.2:p.Phe540=
ENST00000442011.6:c.1620T=	ENSP00000416330.2:p.Phe540=
ENST00000506699.5:n.2137T=
ENST00000507018.5:c.1598T=
ENST00000509485.5:c.617T=
ENST00000514242.5:n.391T=
ENST00000514554.5:c.772T=
NM_000358.2:c.1620T=	NP_000349.1:p.Phe540=
NM_000358.3:c.1620T= MANE Select	NP_000349.1:p.Phe540=