Canonical Allele Identifier: CA1584798300
Gene: TGFBI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136056747A= , CM000667.2:g.136056747A= GRCh38
NC_000005.9:g.135392436A= , CM000667.1:g.135392436A= GRCh37
NC_000005.8:g.135420335A= NCBI36
NG_012646.1:g.32853A=

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1630A= MANE Select ENSP00000416330.2:p.Asn544=
ENST00000442011.6:c.1630A= ENSP00000416330.2:p.Asn544=
ENST00000506699.5:n.2147A=
ENST00000507018.5:c.1608A=
ENST00000509485.5:c.627A=
ENST00000514242.5:n.401A=
ENST00000514554.5:c.782A=
NM_000358.2:c.1630A= NP_000349.1:p.Asn544=
NM_000358.3:c.1630A= MANE Select NP_000349.1:p.Asn544=