Canonical Allele Identifier: CA2675393770

Gene: TGFBI

Linked Data

• gnomAD v4: 5-136046678-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136046678G>T , CM000667.2:g.136046678G>T	GRCh38
NC_000005.9:g.135382367G>T , CM000667.1:g.135382367G>T	GRCh37
NC_000005.8:g.135410266G>T	NCBI36
NG_012646.1:g.22784G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442011.7:c.460-173G>T MANE Select	ENSP00000416330.2:n.460-173G>T
ENST00000442011.6:c.460-173G>T	ENSP00000416330.2:n.460-173G>T
ENST00000506699.5:n.707G>T
ENST00000507018.5:c.437+122G>T
ENST00000515433.1:n.934G>T
NM_000358.2:c.460-173G>T	NP_000349.1:n.460-173G>T
NM_000358.3:c.460-173G>T MANE Select	NP_000349.1:n.460-173G>T