Canonical Allele Identifier: CA563496296
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1232489901
gnomAD v2: 5-135382276-T-C
gnomAD v4: 5-136046587-T-C
MyVariant Identifiers: chr5:g.135382276T>C (hg19) chr5:g.136046587T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046587T>C , CM000667.2:g.136046587T>C GRCh38
NC_000005.9:g.135382276T>C , CM000667.1:g.135382276T>C GRCh37
NC_000005.8:g.135410175T>C NCBI36
NG_012646.1:g.22693T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+92T>C MANE Select ENSP00000416330.2:n.459+92T>C
ENST00000442011.6:c.459+92T>C ENSP00000416330.2:n.459+92T>C
ENST00000506699.5:n.616T>C
ENST00000507018.5:c.437+31T>C
ENST00000515433.1:n.843T>C
NM_000358.2:c.459+92T>C NP_000349.1:n.459+92T>C
NM_000358.3:c.459+92T>C MANE Select NP_000349.1:n.459+92T>C
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