Canonical Allele Identifier: CA2768528843
Gene: TGFBI HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046566A>G , CM000667.2:g.136046566A>G GRCh38
NC_000005.9:g.135382255A>G , CM000667.1:g.135382255A>G GRCh37
NC_000005.8:g.135410154A>G NCBI36
NG_012646.1:g.22672A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+71A>G MANE Select ENSP00000416330.2:n.459+71A>G
ENST00000442011.6:c.459+71A>G ENSP00000416330.2:n.459+71A>G
ENST00000506699.5:n.595A>G
ENST00000507018.5:c.437+10A>G
ENST00000515433.1:n.822A>G
NM_000358.2:c.459+71A>G NP_000349.1:n.459+71A>G
NM_000358.3:c.459+71A>G MANE Select NP_000349.1:n.459+71A>G