Canonical Allele Identifier: CA119119

Gene: TGFBI

Linked Data

• ClinVar Variation Id: 7866
• ClinVar RCV Id: RCV000008315 ; RCV002227439 ; RCV002288474 ; RCV003329228
• dbSNP Id: rs121909208
• gnomAD v3: 5-136056780-C-T
• gnomAD v4: 5-136056780-C-T
• MyVariant Identifiers: chr5:g.135392469C>T (hg19) ; chr5:g.136056780C>T (hg38)
• PubMed: PMID:9054935 ; PMID:9727509

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136056780C>T , CM000667.2:g.136056780C>T	GRCh38
NC_000005.9:g.135392469C>T , CM000667.1:g.135392469C>T	GRCh37
NC_000005.8:g.135420368C>T	NCBI36
NG_012646.1:g.32886C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1663C>T MANE Select	ENSP00000416330.2:p.Arg555Trp
ENST00000442011.6:c.1663C>T	ENSP00000416330.2:p.Arg555Trp
ENST00000506699.5:n.2180C>T
ENST00000507018.5:c.1641C>T
ENST00000509485.5:c.660C>T
ENST00000514242.5:n.434C>T
ENST00000514554.5:c.815C>T
NM_000358.2:c.1663C>T	NP_000349.1:p.Arg555Trp
NM_000358.3:c.1663C>T MANE Select	NP_000349.1:p.Arg555Trp