Canonical Allele Identifier: CA119121

Gene: TGFBI

Linked Data

• ClinVar Variation Id: 7868
• ClinVar RCV Id: RCV002466395 ; RCV002512901
• dbSNP Id: rs121909210
• ExAC: 5:135382095 C / T
• gnomAD v2: 5-135382095-C-T
• gnomAD v3: 5-136046406-C-T
• gnomAD v4: 5-136046406-C-T
• COSMIC: COSM3769970 ; COSM5421291
• MyVariant Identifiers: chr5:g.135382095C>T (hg19) ; chr5:g.136046406C>T (hg38)
• PubMed: PMID:9054935 ; PMID:9559741

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046406C>T , CM000667.2:g.136046406C>T	GRCh38
NC_000005.9:g.135382095C>T , CM000667.1:g.135382095C>T	GRCh37
NC_000005.8:g.135409994C>T	NCBI36
NG_012646.1:g.22512C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000442011.7:c.370C>T MANE Select	ENSP00000416330.2:p.Arg124Cys
ENST00000442011.6:c.370C>T	ENSP00000416330.2:p.Arg124Cys
ENST00000504185.5:n.527C>T
ENST00000506699.5:n.435C>T
ENST00000507018.5:c.287C>T
ENST00000515433.1:n.662C>T
NM_000358.2:c.370C>T	NP_000349.1:p.Arg124Cys
NM_000358.3:c.370C>T MANE Select	NP_000349.1:p.Arg124Cys