Canonical Allele Identifier: CA446551062
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1204100257
gnomAD v2: 5-135382142-C-T
gnomAD v3: 5-136046453-C-T
gnomAD v4: 5-136046453-C-T
COSMIC: COSM3608670
MyVariant Identifiers: chr5:g.135382142C>T (hg19) chr5:g.136046453C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046453C>T , CM000667.2:g.136046453C>T GRCh38
NC_000005.9:g.135382142C>T , CM000667.1:g.135382142C>T GRCh37
NC_000005.8:g.135410041C>T NCBI36
NG_012646.1:g.22559C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.417C>T MANE Select ENSP00000416330.2:p.Thr139=
ENST00000442011.6:c.417C>T ENSP00000416330.2:p.Thr139=
ENST00000506699.5:n.482C>T
ENST00000507018.5:c.334C>T
ENST00000515433.1:n.709C>T
NM_000358.2:c.417C>T NP_000349.1:p.Thr139=
NM_000358.3:c.417C>T MANE Select NP_000349.1:p.Thr139=
Search 100 bp 5'
Search 100 bp 3'