Canonical Allele Identifier: CA119120
Gene: TGFBI HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.136056781G>A
GRCh37 chr5:g.135392470G>A
Revel Score:
ENST00000442011 (MANE Select) 0.567
ENST00000398813 0.567
ENST00000305126 0.567
gnomAD v4:
chr5-136056781-G-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000008316
RCV002512900
ClinVar Variation:
7867
dbSNP:
121909209
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056781G>A , CM000667.2:g.136056781G>A GRCh38
NC_000005.9:g.135392470G>A , CM000667.1:g.135392470G>A GRCh37
NC_000005.8:g.135420369G>A NCBI36
NG_012646.1:g.32887G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1664G>A MANE Select ENSP00000416330.2:p.Arg555Gln
ENST00000442011.6:c.1664G>A ENSP00000416330.2:p.Arg555Gln
ENST00000506699.5:n.2181G>A
ENST00000507018.5:c.1642G>A
ENST00000509485.5:c.661G>A
ENST00000514242.5:n.435G>A
ENST00000514554.5:c.816G>A
NM_000358.2:c.1664G>A NP_000349.1:p.Arg555Gln
NM_000358.3:c.1664G>A MANE Select NP_000349.1:p.Arg555Gln
Search 100 bp 5'
Search 100 bp 3'