Canonical Allele Identifier: CA1584798276
Gene: TGFBI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056736T= , CM000667.2:g.136056736T= GRCh38
NC_000005.9:g.135392425T= , CM000667.1:g.135392425T= GRCh37
NC_000005.8:g.135420324T= NCBI36
NG_012646.1:g.32842T=

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1619T= MANE Select ENSP00000416330.2:p.Phe540=
ENST00000442011.6:c.1619T= ENSP00000416330.2:p.Phe540=
ENST00000506699.5:n.2136T=
ENST00000507018.5:c.1597T=
ENST00000509485.5:c.616T=
ENST00000514242.5:n.390T=
ENST00000514554.5:c.771T=
NM_000358.2:c.1619T= NP_000349.1:p.Phe540=
NM_000358.3:c.1619T= MANE Select NP_000349.1:p.Phe540=