Canonical Allele Identifier: CA1584798546
Gene: TGFBI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056919A= , CM000667.2:g.136056919A= GRCh38
NC_000005.9:g.135392608A= , CM000667.1:g.135392608A= GRCh37
NC_000005.8:g.135420507A= NCBI36
NG_012646.1:g.33025A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1678+124A= MANE Select ENSP00000416330.2:n.1678+124A=
ENST00000442011.6:c.1678+124A= ENSP00000416330.2:n.1678+124A=
ENST00000506699.5:n.2195+124A=
ENST00000507018.5:c.1656+124A=
ENST00000509485.5:c.675+124A=
ENST00000514242.5:n.449+124A=
ENST00000514554.5:c.830+124A=
NM_000358.2:c.1678+124A= NP_000349.1:n.1678+124A=
NM_000358.3:c.1678+124A= MANE Select NP_000349.1:n.1678+124A=