Canonical Allele Identifier: CA1584798591
Gene: TGFBI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056978C= , CM000667.2:g.136056978C= GRCh38
NC_000005.9:g.135392667C= , CM000667.1:g.135392667C= GRCh37
NC_000005.8:g.135420566C= NCBI36
NG_012646.1:g.33084C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1678+183C= MANE Select ENSP00000416330.2:n.1678+183C=
ENST00000442011.6:c.1678+183C= ENSP00000416330.2:n.1678+183C=
ENST00000506699.5:n.2195+183C=
ENST00000507018.5:c.1656+183C=
ENST00000509485.5:c.675+183C=
ENST00000514242.5:n.449+183C=
ENST00000514554.5:c.830+183C=
NM_000358.2:c.1678+183C= NP_000349.1:n.1678+183C=
NM_000358.3:c.1678+183C= MANE Select NP_000349.1:n.1678+183C=