Canonical Allele Identifier: CA361041905
Gene: TGFBI HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.136056754C>G
GRCh37 chr5:g.135392443C>G
Revel Score:
ENST00000442011 (MANE Select) 0.956
ENST00000398813 0.956
ENST00000305126 0.956
ENST00000514554 0.869
gnomAD v3:
5:136056754 C / G
gnomAD v4:
chr5-136056754-C-G
Joint Max Group AF 0.00003233 (AMR)
Genomes Max Group AF 0.00012879 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056754C>G , CM000667.2:g.136056754C>G GRCh38
NC_000005.9:g.135392443C>G , CM000667.1:g.135392443C>G GRCh37
NC_000005.8:g.135420342C>G NCBI36
NG_012646.1:g.32860C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1637C>G MANE Select ENSP00000416330.2:p.Ala546Gly
ENST00000442011.6:c.1637C>G ENSP00000416330.2:p.Ala546Gly
ENST00000506699.5:n.2154C>G
ENST00000507018.5:c.1615C>G
ENST00000509485.5:c.634C>G
ENST00000514242.5:n.408C>G
ENST00000514554.5:c.789C>G
NM_000358.2:c.1637C>G NP_000349.1:p.Ala546Gly
NM_000358.3:c.1637C>G MANE Select NP_000349.1:p.Ala546Gly
Search 100 bp 5'
Search 100 bp 3'