Canonical Allele Identifier: CA128058444
Gene: TGFBI HGNC NCBI

Linked Data

dbSNP Id: rs997522670
gnomAD v3: 5-136055582-T-C
gnomAD v4: 5-136055582-T-C
MyVariant Identifiers: chr5:g.135391271T>C (hg19) chr5:g.136055582T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055582T>C , CM000667.2:g.136055582T>C GRCh38
NC_000005.9:g.135391271T>C , CM000667.1:g.135391271T>C GRCh37
NC_000005.8:g.135419170T>C NCBI36
NG_012646.1:g.31688T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000442011.7:c.1411-98T>C MANE Select ENSP00000416330.2:n.1411-98T>C
ENST00000442011.6:c.1411-98T>C ENSP00000416330.2:n.1411-98T>C
ENST00000506699.5:n.1928-98T>C
ENST00000507018.5:c.1389-98T>C
ENST00000509485.5:c.326-98T>C
ENST00000514242.5:n.84T>C
ENST00000514554.5:c.563-98T>C
NM_000358.2:c.1411-98T>C NP_000349.1:n.1411-98T>C
NM_000358.3:c.1411-98T>C MANE Select NP_000349.1:n.1411-98T>C
Search 100 bp 5'
Search 100 bp 3'