Canonical Allele Identifier: CA3420348

Gene: TGFBI

Linked Data

• ClinVar Variation Id: 350886
• ClinVar RCV Id: RCV000306431 ; RCV000886133
• dbSNP Id: rs148555720
• ExAC: 5:135390452 C / T
• gnomAD v2: 5-135390452-C-T
• gnomAD v3: 5-136054763-C-T
• gnomAD v4: 5-136054763-C-T
• MyVariant Identifiers: chr5:g.135390452C>T (hg19) ; chr5:g.136054763C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136054763C>T , CM000667.2:g.136054763C>T	GRCh38
NC_000005.9:g.135390452C>T , CM000667.1:g.135390452C>T	GRCh37
NC_000005.8:g.135418351C>T	NCBI36
NG_012646.1:g.30869C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1312C>T MANE Select	ENSP00000416330.2:p.His438Tyr
ENST00000442011.6:c.1312C>T	ENSP00000416330.2:p.His438Tyr
ENST00000506699.5:n.1829C>T
ENST00000507018.5:c.1290C>T
ENST00000508767.5:c.527C>T
ENST00000509485.5:c.227C>T
ENST00000514554.5:c.464C>T
ENST00000515433.1:n.4235C>T
ENST00000604555.5:c.544C>T	ENSP00000474155.1:p.His182Tyr
NM_000358.2:c.1312C>T	NP_000349.1:p.His438Tyr
NM_000358.3:c.1312C>T MANE Select	NP_000349.1:p.His438Tyr