Canonical Allele Identifier: CA119122

Gene: TGFBI

Linked Data

• ClinVar Variation Id: 7869
• ClinVar RCV Id: RCV000008318 ; RCV001543464 ; RCV001807721
• dbSNP Id: rs121909211
• ExAC: 5:135382096 G / A
• gnomAD v2: 5-135382096-G-A
• gnomAD v3: 5-136046407-G-A
• gnomAD v4: 5-136046407-G-A
• COSMIC: COSM3138534
• MyVariant Identifiers: chr5:g.135382096G>A (hg19) ; chr5:g.136046407G>A (hg38)
• PubMed: PMID:9054935 ; PMID:15059726

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046407G>A , CM000667.2:g.136046407G>A	GRCh38
NC_000005.9:g.135382096G>A , CM000667.1:g.135382096G>A	GRCh37
NC_000005.8:g.135409995G>A	NCBI36
NG_012646.1:g.22513G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000442011.7:c.371G>A MANE Select	ENSP00000416330.2:p.Arg124His
ENST00000442011.6:c.371G>A	ENSP00000416330.2:p.Arg124His
ENST00000504185.5:n.528G>A
ENST00000506699.5:n.436G>A
ENST00000507018.5:c.288G>A
ENST00000515433.1:n.663G>A
NM_000358.2:c.371G>A	NP_000349.1:p.Arg124His
NM_000358.3:c.371G>A MANE Select	NP_000349.1:p.Arg124His