Canonical Allele Identifier: CA804298807

Gene: TGFBI

Linked Data

• dbSNP Id: rs1414542072
• gnomAD v3: 5-136057005-C-G
• gnomAD v4: 5-136057005-C-G
• MyVariant Identifiers: chr5:g.135392694C>G (hg19) ; chr5:g.136057005C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136057005C>G , CM000667.2:g.136057005C>G	GRCh38
NC_000005.9:g.135392694C>G , CM000667.1:g.135392694C>G	GRCh37
NC_000005.8:g.135420593C>G	NCBI36
NG_012646.1:g.33111C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1678+210C>G MANE Select	ENSP00000416330.2:n.1678+210C>G
ENST00000442011.6:c.1678+210C>G	ENSP00000416330.2:n.1678+210C>G
ENST00000506699.5:n.2195+210C>G
ENST00000507018.5:c.1656+210C>G
ENST00000509485.5:c.675+210C>G
ENST00000514242.5:n.449+210C>G
ENST00000514554.5:c.830+210C>G
NM_000358.2:c.1678+210C>G	NP_000349.1:n.1678+210C>G
NM_000358.3:c.1678+210C>G MANE Select	NP_000349.1:n.1678+210C>G