Canonical Allele Identifier: CA1584796923

Gene: TGFBI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136055683C= , CM000667.2:g.136055683C=	GRCh38
NC_000005.9:g.135391372C= , CM000667.1:g.135391372C=	GRCh37
NC_000005.8:g.135419271C=	NCBI36
NG_012646.1:g.31789C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000442011.7:c.1414C= MANE Select	ENSP00000416330.2:p.Leu472=
ENST00000442011.6:c.1414C=	ENSP00000416330.2:p.Leu472=
ENST00000506699.5:n.1931C=
ENST00000507018.5:c.1392C=
ENST00000509485.5:c.329C=
ENST00000514242.5:n.185C=
ENST00000514554.5:c.566C=
NM_000358.2:c.1414C=	NP_000349.1:p.Leu472=
NM_000358.3:c.1414C= MANE Select	NP_000349.1:p.Leu472=