Canonical Allele Identifier: CA1584796928
Gene: TGFBI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055685C= , CM000667.2:g.136055685C= GRCh38
NC_000005.9:g.135391374C= , CM000667.1:g.135391374C= GRCh37
NC_000005.8:g.135419273C= NCBI36
NG_012646.1:g.31791C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1416C= MANE Select ENSP00000416330.2:p.Leu472=
ENST00000442011.6:c.1416C= ENSP00000416330.2:p.Leu472=
ENST00000506699.5:n.1933C=
ENST00000507018.5:c.1394C=
ENST00000509485.5:c.331C=
ENST00000514242.5:n.187C=
ENST00000514554.5:c.568C=
NM_000358.2:c.1416C= NP_000349.1:p.Leu472=
NM_000358.3:c.1416C= MANE Select NP_000349.1:p.Leu472=