Canonical Allele Identifier: CA1081884145
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1751645080
gnomAD v3: 5-136056883-T-C
gnomAD v4: 5-136056883-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056883T>C , CM000667.2:g.136056883T>C GRCh38
NC_000005.9:g.135392572T>C , CM000667.1:g.135392572T>C GRCh37
NC_000005.8:g.135420471T>C NCBI36
NG_012646.1:g.32989T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1678+88T>C MANE Select ENSP00000416330.2:n.1678+88T>C
ENST00000442011.6:c.1678+88T>C ENSP00000416330.2:n.1678+88T>C
ENST00000506699.5:n.2195+88T>C
ENST00000507018.5:c.1656+88T>C
ENST00000509485.5:c.675+88T>C
ENST00000514242.5:n.449+88T>C
ENST00000514554.5:c.830+88T>C
NM_000358.2:c.1678+88T>C NP_000349.1:n.1678+88T>C
NM_000358.3:c.1678+88T>C MANE Select NP_000349.1:n.1678+88T>C
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