Canonical Allele Identifier: CA119123

Gene: TGFBI

Linked Data

• ClinVar Variation Id: 7871
• ClinVar RCV Id: RCV001851732 ; RCV002247265
• dbSNP Id: rs121909212
• ExAC: 5:135391459 C / A
• gnomAD v2: 5-135391459-C-A
• gnomAD v3: 5-136055770-C-A
• gnomAD v4: 5-136055770-C-A
• MyVariant Identifiers: chr5:g.135391459C>A (hg19) ; chr5:g.136055770C>A (hg38)
• PubMed: PMID:2003794 ; PMID:9054935 ; PMID:9497262 ; PMID:12400061

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136055770C>A , CM000667.2:g.136055770C>A	GRCh38
NC_000005.9:g.135391459C>A , CM000667.1:g.135391459C>A	GRCh37
NC_000005.8:g.135419358C>A	NCBI36
NG_012646.1:g.31876C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000442011.7:c.1501C>A MANE Select	ENSP00000416330.2:p.Pro501Thr
ENST00000442011.6:c.1501C>A	ENSP00000416330.2:p.Pro501Thr
ENST00000506699.5:n.2018C>A
ENST00000507018.5:c.1479C>A
ENST00000509485.5:c.416C>A
ENST00000514242.5:n.272C>A
ENST00000514554.5:c.653C>A
NM_000358.2:c.1501C>A	NP_000349.1:p.Pro501Thr
NM_000358.3:c.1501C>A MANE Select	NP_000349.1:p.Pro501Thr