Canonical Allele Identifier: CA2675393743
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136046643-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046643T>C , CM000667.2:g.136046643T>C GRCh38
NC_000005.9:g.135382332T>C , CM000667.1:g.135382332T>C GRCh37
NC_000005.8:g.135410231T>C NCBI36
NG_012646.1:g.22749T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+148T>C MANE Select ENSP00000416330.2:n.459+148T>C
ENST00000442011.6:c.459+148T>C ENSP00000416330.2:n.459+148T>C
ENST00000506699.5:n.672T>C
ENST00000507018.5:c.437+87T>C
ENST00000515433.1:n.899T>C
NM_000358.2:c.459+148T>C NP_000349.1:n.459+148T>C
NM_000358.3:c.459+148T>C MANE Select NP_000349.1:n.459+148T>C
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