Canonical Allele Identifier: CA3420041

Gene: TGFBI

Linked Data

• dbSNP Id: rs375468809
• ExAC: 5:135382214 T / A
• gnomAD v2: 5-135382214-T-A
• gnomAD v3: 5-136046525-T-A
• gnomAD v4: 5-136046525-T-A
• MyVariant Identifiers: chr5:g.135382214T>A (hg19) ; chr5:g.136046525T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046525T>A , CM000667.2:g.136046525T>A	GRCh38
NC_000005.9:g.135382214T>A , CM000667.1:g.135382214T>A	GRCh37
NC_000005.8:g.135410113T>A	NCBI36
NG_012646.1:g.22631T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.459+30T>A MANE Select	ENSP00000416330.2:n.459+30T>A
ENST00000442011.6:c.459+30T>A	ENSP00000416330.2:n.459+30T>A
ENST00000506699.5:n.554T>A
ENST00000507018.5:c.406T>A
ENST00000515433.1:n.781T>A
NM_000358.2:c.459+30T>A	NP_000349.1:n.459+30T>A
NM_000358.3:c.459+30T>A MANE Select	NP_000349.1:n.459+30T>A