Canonical Allele Identifier: CA1584791015
Gene: TGFBI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046383C= , CM000667.2:g.136046383C= GRCh38
NC_000005.9:g.135382072C= , CM000667.1:g.135382072C= GRCh37
NC_000005.8:g.135409971C= NCBI36
NG_012646.1:g.22489C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.347C= MANE Select ENSP00000416330.2:p.Thr116=
ENST00000442011.6:c.347C= ENSP00000416330.2:p.Thr116=
ENST00000504185.5:n.504C=
ENST00000506699.5:n.412C=
ENST00000507018.5:c.264C=
ENST00000515433.1:n.639C=
NM_000358.2:c.347C= NP_000349.1:p.Thr116=
NM_000358.3:c.347C= MANE Select NP_000349.1:p.Thr116=