Canonical Allele Identifier: CA250551
Gene: TGFBI HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.136062674G>C
GRCh37 chr5:g.135398363G>C
Revel Score:
ENST00000442011 (MANE Select) 0.458
ENST00000398813 0.458
ENST00000508076 0.458
gnomAD v2:
5:135398363 G / C
gnomAD v3:
5:136062674 G / C
gnomAD v4:
chr5-136062674-G-C
Joint Max Group AF 0.00160962 (NFE)
Genomes Max Group AF 0.00156174 (NFE)
Exomes Max Group AF 0.00159913 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136062674G>C , CM000667.2:g.136062674G>C GRCh38
NC_000005.9:g.135398363G>C , CM000667.1:g.135398363G>C GRCh37
NC_000005.8:g.135426262G>C NCBI36
NG_012646.1:g.38780G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1998G>C MANE Select ENSP00000416330.2:p.Arg666Ser
ENST00000442011.6:c.1998G>C ENSP00000416330.2:p.Arg666Ser
ENST00000503087.1:c.213-512G>C
ENST00000504411.1:n.402G>C
ENST00000506699.5:n.2515G>C
ENST00000507018.5:c.1976G>C
ENST00000508076.5:c.144G>C ENSP00000423935.1:p.Arg48Ser
ENST00000514554.5:c.1059-512G>C
NM_000358.2:c.1998G>C NP_000349.1:p.Arg666Ser
NM_000358.3:c.1998G>C MANE Select NP_000349.1:p.Arg666Ser
Search 100 bp 5'
Search 100 bp 3'