Canonical Allele Identifier: CA446551730

Gene: TGFBI

Linked Data

• gnomAD v4: 5-136055700-C-T
• MyVariant Identifiers: chr5:g.135391389C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136055700C>T , CM000667.2:g.136055700C>T	GRCh38
NC_000005.9:g.135391389C>T , CM000667.1:g.135391389C>T	GRCh37
NC_000005.8:g.135419288C>T	NCBI36
NG_012646.1:g.31806C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1431C>T MANE Select	ENSP00000416330.2:p.Ser477=
ENST00000442011.6:c.1431C>T	ENSP00000416330.2:p.Ser477=
ENST00000506699.5:n.1948C>T
ENST00000507018.5:c.1409C>T
ENST00000509485.5:c.346C>T
ENST00000514242.5:n.202C>T
ENST00000514554.5:c.583C>T
NM_000358.2:c.1431C>T	NP_000349.1:p.Ser477=
NM_000358.3:c.1431C>T MANE Select	NP_000349.1:p.Ser477=