Canonical Allele Identifier: CA1584805879
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1751734345
gnomAD v4: 5-136060814-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136060814C>G , CM000667.2:g.136060814C>G GRCh38
NC_000005.9:g.135396503C>G , CM000667.1:g.135396503C>G GRCh37
NC_000005.8:g.135424402C>G NCBI36
NG_012646.1:g.36920C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1804-20C>G MANE Select ENSP00000416330.2:n.1804-20C>G
ENST00000442011.6:c.1804-20C>G ENSP00000416330.2:n.1804-20C>G
ENST00000503087.1:c.30-20C>G
ENST00000506699.5:n.2321-20C>G
ENST00000507018.5:c.1782-20C>G
ENST00000508076.5:c.-51-20C>G ENSP00000423935.1:n.-51-20C>G
ENST00000513497.1:n.449-20C>G
ENST00000514554.5:c.956-20C>G
NM_000358.2:c.1804-20C>G NP_000349.1:n.1804-20C>G
NM_000358.3:c.1804-20C>G MANE Select NP_000349.1:n.1804-20C>G
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