Canonical Allele Identifier: CA1081883706
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs1751615908
gnomAD v3: 5-136055673-T-G
gnomAD v4: 5-136055673-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055673T>G , CM000667.2:g.136055673T>G GRCh38
NC_000005.9:g.135391362T>G , CM000667.1:g.135391362T>G GRCh37
NC_000005.8:g.135419261T>G NCBI36
NG_012646.1:g.31779T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1411-7T>G MANE Select ENSP00000416330.2:n.1411-7T>G
ENST00000442011.6:c.1411-7T>G ENSP00000416330.2:n.1411-7T>G
ENST00000506699.5:n.1928-7T>G
ENST00000507018.5:c.1389-7T>G
ENST00000509485.5:c.326-7T>G
ENST00000514242.5:n.175T>G
ENST00000514554.5:c.563-7T>G
NM_000358.2:c.1411-7T>G NP_000349.1:n.1411-7T>G
NM_000358.3:c.1411-7T>G MANE Select NP_000349.1:n.1411-7T>G
Search 100 bp 5'
Search 100 bp 3'