Canonical Allele Identifier: CA3420386
Gene: TGFBI HGNC NCBI

Linked Data

ClinVar Variation Id: 350888
ClinVar RCV Id: RCV002520310
dbSNP Id: rs11242308
ExAC: 5:135391366 C / T
gnomAD v2: 5-135391366-C-T
gnomAD v3: 5-136055677-C-T
gnomAD v4: 5-136055677-C-T
MyVariant Identifiers: chr5:g.135391366C>T (hg19) chr5:g.136055677C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136055677C>T , CM000667.2:g.136055677C>T GRCh38
NC_000005.9:g.135391366C>T , CM000667.1:g.135391366C>T GRCh37
NC_000005.8:g.135419265C>T NCBI36
NG_012646.1:g.31783C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000442011.7:c.1411-3C>T MANE Select ENSP00000416330.2:n.1411-3C>T
ENST00000442011.6:c.1411-3C>T ENSP00000416330.2:n.1411-3C>T
ENST00000506699.5:n.1928-3C>T
ENST00000507018.5:c.1389-3C>T
ENST00000509485.5:c.326-3C>T
ENST00000514242.5:n.179C>T
ENST00000514554.5:c.563-3C>T
NM_000358.2:c.1411-3C>T NP_000349.1:n.1411-3C>T
NM_000358.3:c.1411-3C>T MANE Select NP_000349.1:n.1411-3C>T
Search 100 bp 5'
Search 100 bp 3'