Canonical Allele Identifier: CA361039188

Gene: TGFBI

Linked Data

• gnomAD v4: 5-136055681-G-T
• MyVariant Identifiers: chr5:g.135391370G>T (hg19) ; chr5:g.136055681G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136055681G>T , CM000667.2:g.136055681G>T	GRCh38
NC_000005.9:g.135391370G>T , CM000667.1:g.135391370G>T	GRCh37
NC_000005.8:g.135419269G>T	NCBI36
NG_012646.1:g.31787G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000442011.7:c.1412G>T MANE Select	ENSP00000416330.2:p.Ser471Ile
ENST00000442011.6:c.1412G>T	ENSP00000416330.2:p.Ser471Ile
ENST00000506699.5:n.1929G>T
ENST00000507018.5:c.1390G>T
ENST00000509485.5:c.327G>T
ENST00000514242.5:n.183G>T
ENST00000514554.5:c.564G>T
NM_000358.2:c.1412G>T	NP_000349.1:p.Ser471Ile
NM_000358.3:c.1412G>T MANE Select	NP_000349.1:p.Ser471Ile