Canonical Allele Identifier: CA1584798297
Gene: TGFBI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056742C= , CM000667.2:g.136056742C= GRCh38
NC_000005.9:g.135392431C= , CM000667.1:g.135392431C= GRCh37
NC_000005.8:g.135420330C= NCBI36
NG_012646.1:g.32848C=

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1625C= MANE Select ENSP00000416330.2:p.Pro542=
ENST00000442011.6:c.1625C= ENSP00000416330.2:p.Pro542=
ENST00000506699.5:n.2142C=
ENST00000507018.5:c.1603C=
ENST00000509485.5:c.622C=
ENST00000514242.5:n.396C=
ENST00000514554.5:c.777C=
NM_000358.2:c.1625C= NP_000349.1:p.Pro542=
NM_000358.3:c.1625C= MANE Select NP_000349.1:p.Pro542=