Canonical Allele Identifier: CA446551026

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135382082G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046393G>A , CM000667.2:g.136046393G>A	GRCh38
NC_000005.9:g.135382082G>A , CM000667.1:g.135382082G>A	GRCh37
NC_000005.8:g.135409981G>A	NCBI36
NG_012646.1:g.22499G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.357G>A MANE Select	ENSP00000416330.2:p.Gln119=
ENST00000442011.6:c.357G>A	ENSP00000416330.2:p.Gln119=
ENST00000504185.5:n.514G>A
ENST00000506699.5:n.422G>A
ENST00000507018.5:c.274G>A
ENST00000515433.1:n.649G>A
NM_000358.2:c.357G>A	NP_000349.1:p.Gln119=
NM_000358.3:c.357G>A MANE Select	NP_000349.1:p.Gln119=