Canonical Allele Identifier: CA2675393684
Gene: TGFBI HGNC NCBI

Linked Data

gnomAD v4: 5-136046565-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046565G>T , CM000667.2:g.136046565G>T GRCh38
NC_000005.9:g.135382254G>T , CM000667.1:g.135382254G>T GRCh37
NC_000005.8:g.135410153G>T NCBI36
NG_012646.1:g.22671G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+70G>T MANE Select ENSP00000416330.2:n.459+70G>T
ENST00000442011.6:c.459+70G>T ENSP00000416330.2:n.459+70G>T
ENST00000506699.5:n.594G>T
ENST00000507018.5:c.437+9G>T
ENST00000515433.1:n.821G>T
NM_000358.2:c.459+70G>T NP_000349.1:n.459+70G>T
NM_000358.3:c.459+70G>T MANE Select NP_000349.1:n.459+70G>T
Search 100 bp 5'
Search 100 bp 3'