Canonical Allele Identifier: CA1584798631

Gene: TGFBI

Linked Data

• dbSNP Id: rs1751649674

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136057020G>T , CM000667.2:g.136057020G>T	GRCh38
NC_000005.9:g.135392709G>T , CM000667.1:g.135392709G>T	GRCh37
NC_000005.8:g.135420608G>T	NCBI36
NG_012646.1:g.33126G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1678+225G>T MANE Select	ENSP00000416330.2:n.1678+225G>T
ENST00000442011.6:c.1678+225G>T	ENSP00000416330.2:n.1678+225G>T
ENST00000506699.5:n.2195+225G>T
ENST00000507018.5:c.1656+225G>T
ENST00000509485.5:c.675+225G>T
ENST00000514242.5:n.449+225G>T
ENST00000514554.5:c.830+225G>T
NM_000358.2:c.1678+225G>T	NP_000349.1:n.1678+225G>T
NM_000358.3:c.1678+225G>T MANE Select	NP_000349.1:n.1678+225G>T