Canonical Allele Identifier: CA2675393663
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136046548-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046548C>A , CM000667.2:g.136046548C>A GRCh38
NC_000005.9:g.135382237C>A , CM000667.1:g.135382237C>A GRCh37
NC_000005.8:g.135410136C>A NCBI36
NG_012646.1:g.22654C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+53C>A MANE Select ENSP00000416330.2:n.459+53C>A
ENST00000442011.6:c.459+53C>A ENSP00000416330.2:n.459+53C>A
ENST00000506699.5:n.577C>A
ENST00000507018.5:c.429C>A
ENST00000515433.1:n.804C>A
NM_000358.2:c.459+53C>A NP_000349.1:n.459+53C>A
NM_000358.3:c.459+53C>A MANE Select NP_000349.1:n.459+53C>A
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