Canonical Allele Identifier: CA446551864
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136056746-A-C
MyVariant Identifiers: chr5:g.135392435A>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056746A>C , CM000667.2:g.136056746A>C GRCh38
NC_000005.9:g.135392435A>C , CM000667.1:g.135392435A>C GRCh37
NC_000005.8:g.135420334A>C NCBI36
NG_012646.1:g.32852A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1629A>C MANE Select ENSP00000416330.2:p.Thr543=
ENST00000442011.6:c.1629A>C ENSP00000416330.2:p.Thr543=
ENST00000506699.5:n.2146A>C
ENST00000507018.5:c.1607A>C
ENST00000509485.5:c.626A>C
ENST00000514242.5:n.400A>C
ENST00000514554.5:c.781A>C
NM_000358.2:c.1629A>C NP_000349.1:p.Thr543=
NM_000358.3:c.1629A>C MANE Select NP_000349.1:p.Thr543=
Search 100 bp 5'
Search 100 bp 3'