Canonical Allele Identifier: CA446551726

Gene: TGFBI

Linked Data

• gnomAD v4: 5-136055688-C-T
• MyVariant Identifiers: chr5:g.135391377C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136055688C>T , CM000667.2:g.136055688C>T	GRCh38
NC_000005.9:g.135391377C>T , CM000667.1:g.135391377C>T	GRCh37
NC_000005.8:g.135419276C>T	NCBI36
NG_012646.1:g.31794C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000442011.7:c.1419C>T MANE Select	ENSP00000416330.2:p.Cys473=
ENST00000442011.6:c.1419C>T	ENSP00000416330.2:p.Cys473=
ENST00000506699.5:n.1936C>T
ENST00000507018.5:c.1397C>T
ENST00000509485.5:c.334C>T
ENST00000514242.5:n.190C>T
ENST00000514554.5:c.571C>T
NM_000358.2:c.1419C>T	NP_000349.1:p.Cys473=
NM_000358.3:c.1419C>T MANE Select	NP_000349.1:p.Cys473=