Canonical Allele Identifier: CA1584791162
Gene: TGFBI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046670C= , CM000667.2:g.136046670C= GRCh38
NC_000005.9:g.135382359C= , CM000667.1:g.135382359C= GRCh37
NC_000005.8:g.135410258C= NCBI36
NG_012646.1:g.22776C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+175C= MANE Select ENSP00000416330.2:n.459+175C=
ENST00000442011.6:c.459+175C= ENSP00000416330.2:n.459+175C=
ENST00000506699.5:n.699C=
ENST00000507018.5:c.437+114C=
ENST00000515433.1:n.926C=
NM_000358.2:c.459+175C= NP_000349.1:n.459+175C=
NM_000358.3:c.459+175C= MANE Select NP_000349.1:n.459+175C=