Canonical Allele Identifier: CA3420470
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs747839006
ExAC: 5:135392428 C / T
gnomAD v2: 5-135392428-C-T
gnomAD v4: 5-136056739-C-T
MyVariant Identifiers: chr5:g.135392428C>T (hg19) chr5:g.136056739C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056739C>T , CM000667.2:g.136056739C>T GRCh38
NC_000005.9:g.135392428C>T , CM000667.1:g.135392428C>T GRCh37
NC_000005.8:g.135420327C>T NCBI36
NG_012646.1:g.32845C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1622C>T MANE Select ENSP00000416330.2:p.Ala541Val
ENST00000442011.6:c.1622C>T ENSP00000416330.2:p.Ala541Val
ENST00000506699.5:n.2139C>T
ENST00000507018.5:c.1600C>T
ENST00000509485.5:c.619C>T
ENST00000514242.5:n.393C>T
ENST00000514554.5:c.774C>T
NM_000358.2:c.1622C>T NP_000349.1:p.Ala541Val
NM_000358.3:c.1622C>T MANE Select NP_000349.1:p.Ala541Val
Search 100 bp 5'
Search 100 bp 3'