Canonical Allele Identifier: CA1584791007
Gene: TGFBI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046365T= , CM000667.2:g.136046365T= GRCh38
NC_000005.9:g.135382054T= , CM000667.1:g.135382054T= GRCh37
NC_000005.8:g.135409953T= NCBI36
NG_012646.1:g.22471T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.329T= MANE Select ENSP00000416330.2:p.Leu110=
ENST00000442011.6:c.329T= ENSP00000416330.2:p.Leu110=
ENST00000504185.5:n.486T=
ENST00000506699.5:n.394T=
ENST00000507018.5:c.246T=
ENST00000515433.1:n.621T=
NM_000358.2:c.329T= NP_000349.1:p.Leu110=
NM_000358.3:c.329T= MANE Select NP_000349.1:p.Leu110=