Canonical Allele Identifier: CA1584796918
Gene: TGFBI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055682C= , CM000667.2:g.136055682C= GRCh38
NC_000005.9:g.135391371C= , CM000667.1:g.135391371C= GRCh37
NC_000005.8:g.135419270C= NCBI36
NG_012646.1:g.31788C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1413C= MANE Select ENSP00000416330.2:p.Ser471=
ENST00000442011.6:c.1413C= ENSP00000416330.2:p.Ser471=
ENST00000506699.5:n.1930C=
ENST00000507018.5:c.1391C=
ENST00000509485.5:c.328C=
ENST00000514242.5:n.184C=
ENST00000514554.5:c.565C=
NM_000358.2:c.1413C= NP_000349.1:p.Ser471=
NM_000358.3:c.1413C= MANE Select NP_000349.1:p.Ser471=