Canonical Allele Identifier: CA1584798294
Gene: TGFBI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056740T= , CM000667.2:g.136056740T= GRCh38
NC_000005.9:g.135392429T= , CM000667.1:g.135392429T= GRCh37
NC_000005.8:g.135420328T= NCBI36
NG_012646.1:g.32846T=

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1623T= MANE Select ENSP00000416330.2:p.Ala541=
ENST00000442011.6:c.1623T= ENSP00000416330.2:p.Ala541=
ENST00000506699.5:n.2140T=
ENST00000507018.5:c.1601T=
ENST00000509485.5:c.620T=
ENST00000514242.5:n.394T=
ENST00000514554.5:c.775T=
NM_000358.2:c.1623T= NP_000349.1:p.Ala541=
NM_000358.3:c.1623T= MANE Select NP_000349.1:p.Ala541=