Canonical Allele Identifier: CA128059155
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs546436799
gnomAD v2: 5-135392576-C-T
gnomAD v3: 5-136056887-C-T
gnomAD v4: 5-136056887-C-T
MyVariant Identifiers: chr5:g.135392576C>T (hg19) chr5:g.136056887C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056887C>T , CM000667.2:g.136056887C>T GRCh38
NC_000005.9:g.135392576C>T , CM000667.1:g.135392576C>T GRCh37
NC_000005.8:g.135420475C>T NCBI36
NG_012646.1:g.32993C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1678+92C>T MANE Select ENSP00000416330.2:n.1678+92C>T
ENST00000442011.6:c.1678+92C>T ENSP00000416330.2:n.1678+92C>T
ENST00000506699.5:n.2195+92C>T
ENST00000507018.5:c.1656+92C>T
ENST00000509485.5:c.675+92C>T
ENST00000514242.5:n.449+92C>T
ENST00000514554.5:c.830+92C>T
NM_000358.2:c.1678+92C>T NP_000349.1:n.1678+92C>T
NM_000358.3:c.1678+92C>T MANE Select NP_000349.1:n.1678+92C>T
Search 100 bp 5'
Search 100 bp 3'