Canonical Allele Identifier: CA1584791027
Gene: TGFBI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046406C= , CM000667.2:g.136046406C= GRCh38
NC_000005.9:g.135382095C= , CM000667.1:g.135382095C= GRCh37
NC_000005.8:g.135409994C= NCBI36
NG_012646.1:g.22512C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.370C= MANE Select ENSP00000416330.2:p.Arg124=
ENST00000442011.6:c.370C= ENSP00000416330.2:p.Arg124=
ENST00000504185.5:n.527C=
ENST00000506699.5:n.435C=
ENST00000507018.5:c.287C=
ENST00000515433.1:n.662C=
NM_000358.2:c.370C= NP_000349.1:p.Arg124=
NM_000358.3:c.370C= MANE Select NP_000349.1:p.Arg124=