Canonical Allele Identifier: CA361041798
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136056737-T-G
MyVariant Identifiers: chr5:g.135392426T>G (hg19) chr5:g.136056737T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056737T>G , CM000667.2:g.136056737T>G GRCh38
NC_000005.9:g.135392426T>G , CM000667.1:g.135392426T>G GRCh37
NC_000005.8:g.135420325T>G NCBI36
NG_012646.1:g.32843T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1620T>G MANE Select ENSP00000416330.2:p.Phe540Leu
ENST00000442011.6:c.1620T>G ENSP00000416330.2:p.Phe540Leu
ENST00000506699.5:n.2137T>G
ENST00000507018.5:c.1598T>G
ENST00000509485.5:c.617T>G
ENST00000514242.5:n.391T>G
ENST00000514554.5:c.772T>G
NM_000358.2:c.1620T>G NP_000349.1:p.Phe540Leu
NM_000358.3:c.1620T>G MANE Select NP_000349.1:p.Phe540Leu
Search 100 bp 5'
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