Canonical Allele Identifier: CA2740685822

Gene: TGFBI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046113A>T , CM000667.2:g.136046113A>T	GRCh38
NC_000005.9:g.135381802A>T , CM000667.1:g.135381802A>T	GRCh37
NC_000005.8:g.135409701A>T	NCBI36
NG_012646.1:g.22219A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.299-222A>T MANE Select	ENSP00000416330.2:n.299-222A>T
ENST00000442011.6:c.299-222A>T	ENSP00000416330.2:n.299-222A>T
ENST00000504185.5:n.456-222A>T
ENST00000506699.5:n.364-222A>T
ENST00000507018.5:c.216-222A>T
ENST00000515433.1:n.369A>T
NM_000358.2:c.299-222A>T	NP_000349.1:n.299-222A>T
NM_000358.3:c.299-222A>T MANE Select	NP_000349.1:n.299-222A>T