Canonical Allele Identifier: CA2675393490
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136046116-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046116T>G , CM000667.2:g.136046116T>G GRCh38
NC_000005.9:g.135381805T>G , CM000667.1:g.135381805T>G GRCh37
NC_000005.8:g.135409704T>G NCBI36
NG_012646.1:g.22222T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.299-219T>G MANE Select ENSP00000416330.2:n.299-219T>G
ENST00000442011.6:c.299-219T>G ENSP00000416330.2:n.299-219T>G
ENST00000504185.5:n.456-219T>G
ENST00000506699.5:n.364-219T>G
ENST00000507018.5:c.216-219T>G
ENST00000515433.1:n.372T>G
NM_000358.2:c.299-219T>G NP_000349.1:n.299-219T>G
NM_000358.3:c.299-219T>G MANE Select NP_000349.1:n.299-219T>G
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