Canonical Allele Identifier: CA1584791108
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1751431812
gnomAD v4: 5-136046563-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136046563A>C , CM000667.2:g.136046563A>C GRCh38
NC_000005.9:g.135382252A>C , CM000667.1:g.135382252A>C GRCh37
NC_000005.8:g.135410151A>C NCBI36
NG_012646.1:g.22669A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.459+68A>C MANE Select ENSP00000416330.2:n.459+68A>C
ENST00000442011.6:c.459+68A>C ENSP00000416330.2:n.459+68A>C
ENST00000506699.5:n.592A>C
ENST00000507018.5:c.437+7A>C
ENST00000515433.1:n.819A>C
NM_000358.2:c.459+68A>C NP_000349.1:n.459+68A>C
NM_000358.3:c.459+68A>C MANE Select NP_000349.1:n.459+68A>C
Search 100 bp 5'
Search 100 bp 3'