Canonical Allele Identifier: CA2675393613
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136046319-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046319T>A , CM000667.2:g.136046319T>A GRCh38
NC_000005.9:g.135382008T>A , CM000667.1:g.135382008T>A GRCh37
NC_000005.8:g.135409907T>A NCBI36
NG_012646.1:g.22425T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.299-16T>A MANE Select ENSP00000416330.2:n.299-16T>A
ENST00000442011.6:c.299-16T>A ENSP00000416330.2:n.299-16T>A
ENST00000504185.5:n.456-16T>A
ENST00000506699.5:n.364-16T>A
ENST00000507018.5:c.216-16T>A
ENST00000515433.1:n.575T>A
NM_000358.2:c.299-16T>A NP_000349.1:n.299-16T>A
NM_000358.3:c.299-16T>A MANE Select NP_000349.1:n.299-16T>A
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