Canonical Allele Identifier: CA361041794
Gene: TGFBI HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.135392425T>G (hg19) chr5:g.136056736T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056736T>G , CM000667.2:g.136056736T>G GRCh38
NC_000005.9:g.135392425T>G , CM000667.1:g.135392425T>G GRCh37
NC_000005.8:g.135420324T>G NCBI36
NG_012646.1:g.32842T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1619T>G MANE Select ENSP00000416330.2:p.Phe540Cys
ENST00000442011.6:c.1619T>G ENSP00000416330.2:p.Phe540Cys
ENST00000506699.5:n.2136T>G
ENST00000507018.5:c.1597T>G
ENST00000509485.5:c.616T>G
ENST00000514242.5:n.390T>G
ENST00000514554.5:c.771T>G
NM_000358.2:c.1619T>G NP_000349.1:p.Phe540Cys
NM_000358.3:c.1619T>G MANE Select NP_000349.1:p.Phe540Cys
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