Canonical Allele Identifier: CA1584796833
Gene: TGFBI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055632C= , CM000667.2:g.136055632C= GRCh38
NC_000005.9:g.135391321C= , CM000667.1:g.135391321C= GRCh37
NC_000005.8:g.135419220C= NCBI36
NG_012646.1:g.31738C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1411-48C= MANE Select ENSP00000416330.2:n.1411-48C=
ENST00000442011.6:c.1411-48C= ENSP00000416330.2:n.1411-48C=
ENST00000506699.5:n.1928-48C=
ENST00000507018.5:c.1389-48C=
ENST00000509485.5:c.326-48C=
ENST00000514242.5:n.134C=
ENST00000514554.5:c.563-48C=
NM_000358.2:c.1411-48C= NP_000349.1:n.1411-48C=
NM_000358.3:c.1411-48C= MANE Select NP_000349.1:n.1411-48C=