Canonical Allele Identifier: CA563254379

Gene: TGFBI

Linked Data

• dbSNP Id: rs1185531745
• gnomAD v2: 5-135392705-G-A
• gnomAD v3: 5-136057016-G-A
• gnomAD v4: 5-136057016-G-A
• MyVariant Identifiers: chr5:g.135392705G>A (hg19) ; chr5:g.136057016G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136057016G>A , CM000667.2:g.136057016G>A	GRCh38
NC_000005.9:g.135392705G>A , CM000667.1:g.135392705G>A	GRCh37
NC_000005.8:g.135420604G>A	NCBI36
NG_012646.1:g.33122G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.1678+221G>A MANE Select	ENSP00000416330.2:n.1678+221G>A
ENST00000442011.6:c.1678+221G>A	ENSP00000416330.2:n.1678+221G>A
ENST00000506699.5:n.2195+221G>A
ENST00000507018.5:c.1656+221G>A
ENST00000509485.5:c.675+221G>A
ENST00000514242.5:n.449+221G>A
ENST00000514554.5:c.830+221G>A
NM_000358.2:c.1678+221G>A	NP_000349.1:n.1678+221G>A
NM_000358.3:c.1678+221G>A MANE Select	NP_000349.1:n.1678+221G>A