Canonical Allele Identifier: CA2675393779
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136046684-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046684C>A , CM000667.2:g.136046684C>A GRCh38
NC_000005.9:g.135382373C>A , CM000667.1:g.135382373C>A GRCh37
NC_000005.8:g.135410272C>A NCBI36
NG_012646.1:g.22790C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.460-167C>A MANE Select ENSP00000416330.2:n.460-167C>A
ENST00000442011.6:c.460-167C>A ENSP00000416330.2:n.460-167C>A
ENST00000506699.5:n.713C>A
ENST00000507018.5:c.437+128C>A
ENST00000515433.1:n.940C>A
NM_000358.2:c.460-167C>A NP_000349.1:n.460-167C>A
NM_000358.3:c.460-167C>A MANE Select NP_000349.1:n.460-167C>A
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