Canonical Allele Identifier: CA1584790845

Gene: TGFBI

Linked Data

• dbSNP Id: rs1751420226

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046039T>G , CM000667.2:g.136046039T>G	GRCh38
NC_000005.9:g.135381728T>G , CM000667.1:g.135381728T>G	GRCh37
NC_000005.8:g.135409627T>G	NCBI36
NG_012646.1:g.22145T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.299-296T>G MANE Select	ENSP00000416330.2:n.299-296T>G
ENST00000442011.6:c.299-296T>G	ENSP00000416330.2:n.299-296T>G
ENST00000504185.5:n.456-296T>G
ENST00000506699.5:n.364-296T>G
ENST00000507018.5:c.216-296T>G
ENST00000515433.1:n.295T>G
NM_000358.2:c.299-296T>G	NP_000349.1:n.299-296T>G
NM_000358.3:c.299-296T>G MANE Select	NP_000349.1:n.299-296T>G