Canonical Allele Identifier: CA1584798588
Gene: TGFBI HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056977C= , CM000667.2:g.136056977C= GRCh38
NC_000005.9:g.135392666C= , CM000667.1:g.135392666C= GRCh37
NC_000005.8:g.135420565C= NCBI36
NG_012646.1:g.33083C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1678+182C= MANE Select ENSP00000416330.2:n.1678+182C=
ENST00000442011.6:c.1678+182C= ENSP00000416330.2:n.1678+182C=
ENST00000506699.5:n.2195+182C=
ENST00000507018.5:c.1656+182C=
ENST00000509485.5:c.675+182C=
ENST00000514242.5:n.449+182C=
ENST00000514554.5:c.830+182C=
NM_000358.2:c.1678+182C= NP_000349.1:n.1678+182C=
NM_000358.3:c.1678+182C= MANE Select NP_000349.1:n.1678+182C=
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