Canonical Allele Identifier: CA361039463

Gene: TGFBI

Linked Data

• COSMIC: COSM3138559
• MyVariant Identifiers: chr5:g.135391400C>T (hg19) ; chr5:g.136055711C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136055711C>T , CM000667.2:g.136055711C>T	GRCh38
NC_000005.9:g.135391400C>T , CM000667.1:g.135391400C>T	GRCh37
NC_000005.8:g.135419299C>T	NCBI36
NG_012646.1:g.31817C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1442C>T MANE Select	ENSP00000416330.2:p.Ala481Val
ENST00000442011.6:c.1442C>T	ENSP00000416330.2:p.Ala481Val
ENST00000506699.5:n.1959C>T
ENST00000507018.5:c.1420C>T
ENST00000509485.5:c.357C>T
ENST00000514242.5:n.213C>T
ENST00000514554.5:c.594C>T
NM_000358.2:c.1442C>T	NP_000349.1:p.Ala481Val
NM_000358.3:c.1442C>T MANE Select	NP_000349.1:p.Ala481Val