Canonical Allele Identifier: CA3420427
Gene: TGFBI HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.136055770C>T
GRCh37 chr5:g.135391459C>T
Revel Score:
ENST00000514554 0.743
ENST00000442011 (MANE Select) 0.543
ENST00000398813 0.543
ENST00000305126 0.543
gnomAD v2:
5:135391459 C / T
gnomAD v3:
5:136055770 C / T
gnomAD v4:
chr5-136055770-C-T
Joint Max Group AF 0.0001336 (MID)
Genomes Max Group AF 0.00005286 (AMR)
Exomes Max Group AF 0.0001414 (MID)
ClinVar RCV:
RCV001157894
ClinVar Variation:
907796
dbSNP:
121909212
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1501C>T MANE Select ENSP00000416330.2:p.Pro501Ser
ENST00000442011.6:c.1501C>T ENSP00000416330.2:p.Pro501Ser
ENST00000506699.5:n.2018C>T
ENST00000507018.5:c.1479C>T
ENST00000509485.5:c.416C>T
ENST00000514242.5:n.272C>T
ENST00000514554.5:c.653C>T
NM_000358.2:c.1501C>T NP_000349.1:p.Pro501Ser
NM_000358.3:c.1501C>T MANE Select NP_000349.1:p.Pro501Ser
Search 100 bp 5'
Search 100 bp 3'