Canonical Allele Identifier: CA1584797175
Gene: TGFBI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055775G= , CM000667.2:g.136055775G= GRCh38
NC_000005.9:g.135391464G= , CM000667.1:g.135391464G= GRCh37
NC_000005.8:g.135419363G= NCBI36
NG_012646.1:g.31881G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1506G= MANE Select ENSP00000416330.2:p.Met502=
ENST00000442011.6:c.1506G= ENSP00000416330.2:p.Met502=
ENST00000506699.5:n.2023G=
ENST00000507018.5:c.1484G=
ENST00000509485.5:c.421G=
ENST00000514242.5:n.277G=
ENST00000514554.5:c.658G=
NM_000358.2:c.1506G= NP_000349.1:p.Met502=
NM_000358.3:c.1506G= MANE Select NP_000349.1:p.Met502=