Canonical Allele Identifier: CA2768529362
Gene: TGFBI HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136057040A>G , CM000667.2:g.136057040A>G GRCh38
NC_000005.9:g.135392729A>G , CM000667.1:g.135392729A>G GRCh37
NC_000005.8:g.135420628A>G NCBI36
NG_012646.1:g.33146A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1678+245A>G MANE Select ENSP00000416330.2:n.1678+245A>G
ENST00000442011.6:c.1678+245A>G ENSP00000416330.2:n.1678+245A>G
ENST00000506699.5:n.2195+245A>G
ENST00000507018.5:c.1656+245A>G
ENST00000509485.5:c.675+245A>G
ENST00000514242.5:n.449+245A>G
ENST00000514554.5:c.830+245A>G
NM_000358.2:c.1678+245A>G NP_000349.1:n.1678+245A>G
NM_000358.3:c.1678+245A>G MANE Select NP_000349.1:n.1678+245A>G
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