Canonical Allele Identifier: CA361032842

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135382165C>G (hg19) ; chr5:g.136046476C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046476C>G , CM000667.2:g.136046476C>G	GRCh38
NC_000005.9:g.135382165C>G , CM000667.1:g.135382165C>G	GRCh37
NC_000005.8:g.135410064C>G	NCBI36
NG_012646.1:g.22582C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.440C>G MANE Select	ENSP00000416330.2:p.Ala147Gly
ENST00000442011.6:c.440C>G	ENSP00000416330.2:p.Ala147Gly
ENST00000506699.5:n.505C>G
ENST00000507018.5:c.357C>G
ENST00000515433.1:n.732C>G
NM_000358.2:c.440C>G	NP_000349.1:p.Ala147Gly
NM_000358.3:c.440C>G MANE Select	NP_000349.1:p.Ala147Gly