Canonical Allele Identifier: CA361042147

Gene: TGFBI

Linked Data

• MyVariant Identifiers: chr5:g.135392485G>T (hg19) ; chr5:g.136056796G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136056796G>T , CM000667.2:g.136056796G>T	GRCh38
NC_000005.9:g.135392485G>T , CM000667.1:g.135392485G>T	GRCh37
NC_000005.8:g.135420384G>T	NCBI36
NG_012646.1:g.32902G>T

Transcript Alleles

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