Canonical Allele Identifier: CA2675398350
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136056877-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056877C>G , CM000667.2:g.136056877C>G GRCh38
NC_000005.9:g.135392566C>G , CM000667.1:g.135392566C>G GRCh37
NC_000005.8:g.135420465C>G NCBI36
NG_012646.1:g.32983C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1678+82C>G MANE Select ENSP00000416330.2:n.1678+82C>G
ENST00000442011.6:c.1678+82C>G ENSP00000416330.2:n.1678+82C>G
ENST00000506699.5:n.2195+82C>G
ENST00000507018.5:c.1656+82C>G
ENST00000509485.5:c.675+82C>G
ENST00000514242.5:n.449+82C>G
ENST00000514554.5:c.830+82C>G
NM_000358.2:c.1678+82C>G NP_000349.1:n.1678+82C>G
NM_000358.3:c.1678+82C>G MANE Select NP_000349.1:n.1678+82C>G
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