Canonical Allele Identifier: CA1584796883
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs140308998
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055659C>G , CM000667.2:g.136055659C>G GRCh38
NC_000005.9:g.135391348C>G , CM000667.1:g.135391348C>G GRCh37
NC_000005.8:g.135419247C>G NCBI36
NG_012646.1:g.31765C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1411-21C>G MANE Select ENSP00000416330.2:n.1411-21C>G
ENST00000442011.6:c.1411-21C>G ENSP00000416330.2:n.1411-21C>G
ENST00000506699.5:n.1928-21C>G
ENST00000507018.5:c.1389-21C>G
ENST00000509485.5:c.326-21C>G
ENST00000514242.5:n.161C>G
ENST00000514554.5:c.563-21C>G
NM_000358.2:c.1411-21C>G NP_000349.1:n.1411-21C>G
NM_000358.3:c.1411-21C>G MANE Select NP_000349.1:n.1411-21C>G
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