Canonical Allele Identifier: CA3420468
Gene: TGFBI HGNC NCBI

Linked Data

ClinVar Variation Id: 255937
ClinVar RCV Id: RCV000243709 RCV000263346 RCV002057346
dbSNP Id: rs4669
ExAC: 5:135392426 T / C
gnomAD v2: 5-135392426-T-C
gnomAD v3: 5-136056737-T-C
gnomAD v4: 5-136056737-T-C
MyVariant Identifiers: chr5:g.135392426T>C (hg19) chr5:g.136056737T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056737T>C , CM000667.2:g.136056737T>C GRCh38
NC_000005.9:g.135392426T>C , CM000667.1:g.135392426T>C GRCh37
NC_000005.8:g.135420325T>C NCBI36
NG_012646.1:g.32843T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1620T>C MANE Select ENSP00000416330.2:p.Phe540=
ENST00000442011.6:c.1620T>C ENSP00000416330.2:p.Phe540=
ENST00000506699.5:n.2137T>C
ENST00000507018.5:c.1598T>C
ENST00000509485.5:c.617T>C
ENST00000514242.5:n.391T>C
ENST00000514554.5:c.772T>C
NM_000358.2:c.1620T>C NP_000349.1:p.Phe540=
NM_000358.3:c.1620T>C MANE Select NP_000349.1:p.Phe540=
Search 100 bp 5'
Search 100 bp 3'