Canonical Allele Identifier: CA119123
Gene: TGFBI HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.136055770C>A
GRCh37 chr5:g.135391459C>A
Revel Score:
ENST00000514554 0.734
ENST00000442011 (MANE Select) 0.629
ENST00000398813 0.629
ENST00000305126 0.629
gnomAD v2:
5:135391459 C / A
gnomAD v3:
5:136055770 C / A
gnomAD v4:
chr5-136055770-C-A
Joint Max Group AF 0.0065561 (EAS)
Genomes Max Group AF 0.00287435 (EAS)
Exomes Max Group AF 0.00688421 (EAS)
JSON-LD

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
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