Canonical Allele Identifier: CA804297601
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1358935961

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055669C>G , CM000667.2:g.136055669C>G GRCh38
NC_000005.9:g.135391358C>G , CM000667.1:g.135391358C>G GRCh37
NC_000005.8:g.135419257C>G NCBI36
NG_012646.1:g.31775C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1411-11C>G MANE Select ENSP00000416330.2:n.1411-11C>G
ENST00000442011.6:c.1411-11C>G ENSP00000416330.2:n.1411-11C>G
ENST00000506699.5:n.1928-11C>G
ENST00000507018.5:c.1389-11C>G
ENST00000509485.5:c.326-11C>G
ENST00000514242.5:n.171C>G
ENST00000514554.5:c.563-11C>G
NM_000358.2:c.1411-11C>G NP_000349.1:n.1411-11C>G
NM_000358.3:c.1411-11C>G MANE Select NP_000349.1:n.1411-11C>G