Canonical Allele Identifier: CA128059209

Gene: TGFBI

Linked Data

• dbSNP Id: rs559551498
• gnomAD v3: 5-136056977-C-A
• gnomAD v4: 5-136056977-C-A
• MyVariant Identifiers: chr5:g.135392666C>A (hg19) ; chr5:g.136056977C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136056977C>A , CM000667.2:g.136056977C>A	GRCh38
NC_000005.9:g.135392666C>A , CM000667.1:g.135392666C>A	GRCh37
NC_000005.8:g.135420565C>A	NCBI36
NG_012646.1:g.33083C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1678+182C>A MANE Select	ENSP00000416330.2:n.1678+182C>A
ENST00000442011.6:c.1678+182C>A	ENSP00000416330.2:n.1678+182C>A
ENST00000506699.5:n.2195+182C>A
ENST00000507018.5:c.1656+182C>A
ENST00000509485.5:c.675+182C>A
ENST00000514242.5:n.449+182C>A
ENST00000514554.5:c.830+182C>A
NM_000358.2:c.1678+182C>A	NP_000349.1:n.1678+182C>A
NM_000358.3:c.1678+182C>A MANE Select	NP_000349.1:n.1678+182C>A