Canonical Allele Identifier: CA050564
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1492649
ClinVar RCV Id: RCV001981121
dbSNP Id: rs765219322

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55156317T>C , CM000681.2:g.55156317T>C GRCh38
NC_000019.9:g.55667685T>C , CM000681.1:g.55667685T>C GRCh37
NC_000019.8:g.60359497T>C NCBI36
NG_007866.2:g.6416A>G , LRG_432:g.6416A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000344887.10:c.166A>G MANE Select ENSP00000341838.5:p.Ile56Val
ENST00000665070.1:c.166A>G ENSP00000499482.1:p.Ile56Val
ENST00000344887.9:c.166A>G ENSP00000341838.5:p.Ile56Val
ENST00000585806.5:n.165A>G
ENST00000586669.5:n.174A>G
ENST00000586858.1:c.129A>G ENSP00000465258.1:p.Arg43=
ENST00000587176.5:n.350A>G
ENST00000587871.1:c.785A>G
ENST00000588882.1:c.91A>G ENSP00000466729.1:p.Ile31Val
ENST00000590463.1:n.338A>G
NM_000363.4:c.166A>G , LRG_432t1:c.166A>G NP_000354.4:p.Ile56Val
NM_000363.5:c.166A>G MANE Select NP_000354.4:p.Ile56Val