Canonical Allele Identifier: CA446550979

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135382025C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046336C>T , CM000667.2:g.136046336C>T	GRCh38
NC_000005.9:g.135382025C>T , CM000667.1:g.135382025C>T	GRCh37
NC_000005.8:g.135409924C>T	NCBI36
NG_012646.1:g.22442C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.300C>T MANE Select	ENSP00000416330.2:p.Ala100=
ENST00000442011.6:c.300C>T	ENSP00000416330.2:p.Ala100=
ENST00000504185.5:n.457C>T
ENST00000506699.5:n.365C>T
ENST00000507018.5:c.217C>T
ENST00000515433.1:n.592C>T
NM_000358.2:c.300C>T	NP_000349.1:p.Ala100=
NM_000358.3:c.300C>T MANE Select	NP_000349.1:p.Ala100=