Canonical Allele Identifier: CA1584798575

Gene: TGFBI

Linked Data

• dbSNP Id: rs1580721188

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136056962A>T , CM000667.2:g.136056962A>T	GRCh38
NC_000005.9:g.135392651A>T , CM000667.1:g.135392651A>T	GRCh37
NC_000005.8:g.135420550A>T	NCBI36
NG_012646.1:g.33068A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1678+167A>T MANE Select	ENSP00000416330.2:n.1678+167A>T
ENST00000442011.6:c.1678+167A>T	ENSP00000416330.2:n.1678+167A>T
ENST00000506699.5:n.2195+167A>T
ENST00000507018.5:c.1656+167A>T
ENST00000509485.5:c.675+167A>T
ENST00000514242.5:n.449+167A>T
ENST00000514554.5:c.830+167A>T
NM_000358.2:c.1678+167A>T	NP_000349.1:n.1678+167A>T
NM_000358.3:c.1678+167A>T MANE Select	NP_000349.1:n.1678+167A>T