Canonical Allele Identifier: CA2675393480
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136046101-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046101T>A , CM000667.2:g.136046101T>A GRCh38
NC_000005.9:g.135381790T>A , CM000667.1:g.135381790T>A GRCh37
NC_000005.8:g.135409689T>A NCBI36
NG_012646.1:g.22207T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.299-234T>A MANE Select ENSP00000416330.2:n.299-234T>A
ENST00000442011.6:c.299-234T>A ENSP00000416330.2:n.299-234T>A
ENST00000504185.5:n.456-234T>A
ENST00000506699.5:n.364-234T>A
ENST00000507018.5:c.216-234T>A
ENST00000515433.1:n.357T>A
NM_000358.2:c.299-234T>A NP_000349.1:n.299-234T>A
NM_000358.3:c.299-234T>A MANE Select NP_000349.1:n.299-234T>A
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Search 100 bp 3'