Canonical Allele Identifier: CA2675397192
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136055653-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055653T>G , CM000667.2:g.136055653T>G GRCh38
NC_000005.9:g.135391342T>G , CM000667.1:g.135391342T>G GRCh37
NC_000005.8:g.135419241T>G NCBI36
NG_012646.1:g.31759T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1411-27T>G MANE Select ENSP00000416330.2:n.1411-27T>G
ENST00000442011.6:c.1411-27T>G ENSP00000416330.2:n.1411-27T>G
ENST00000506699.5:n.1928-27T>G
ENST00000507018.5:c.1389-27T>G
ENST00000509485.5:c.326-27T>G
ENST00000514242.5:n.155T>G
ENST00000514554.5:c.563-27T>G
NM_000358.2:c.1411-27T>G NP_000349.1:n.1411-27T>G
NM_000358.3:c.1411-27T>G MANE Select NP_000349.1:n.1411-27T>G
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