Canonical Allele Identifier: CA361032433
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1285523018

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046337C>G , CM000667.2:g.136046337C>G GRCh38
NC_000005.9:g.135382026C>G , CM000667.1:g.135382026C>G GRCh37
NC_000005.8:g.135409925C>G NCBI36
NG_012646.1:g.22443C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.301C>G MANE Select ENSP00000416330.2:p.Leu101Val
ENST00000442011.6:c.301C>G ENSP00000416330.2:p.Leu101Val
ENST00000504185.5:n.458C>G
ENST00000506699.5:n.366C>G
ENST00000507018.5:c.218C>G
ENST00000515433.1:n.593C>G
NM_000358.2:c.301C>G NP_000349.1:p.Leu101Val
NM_000358.3:c.301C>G MANE Select NP_000349.1:p.Leu101Val