Canonical Allele Identifier: CA1081908634
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1580714488
gnomAD v3: 5-136046659-T-A
gnomAD v4: 5-136046659-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046659T>A , CM000667.2:g.136046659T>A GRCh38
NC_000005.9:g.135382348T>A , CM000667.1:g.135382348T>A GRCh37
NC_000005.8:g.135410247T>A NCBI36
NG_012646.1:g.22765T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+164T>A MANE Select ENSP00000416330.2:n.459+164T>A
ENST00000442011.6:c.459+164T>A ENSP00000416330.2:n.459+164T>A
ENST00000506699.5:n.688T>A
ENST00000507018.5:c.437+103T>A
ENST00000515433.1:n.915T>A
NM_000358.2:c.459+164T>A NP_000349.1:n.459+164T>A
NM_000358.3:c.459+164T>A MANE Select NP_000349.1:n.459+164T>A
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