Canonical Allele Identifier: CA022103
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 181595
ClinVar RCV Id: RCV002354395
dbSNP Id: rs730881083

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55151841T>G , CM000681.2:g.55151841T>G GRCh38
NC_000019.9:g.55663209T>G , CM000681.1:g.55663209T>G GRCh37
NC_000019.8:g.60355021T>G NCBI36
NG_007866.2:g.10892A>C , LRG_432:g.10892A>C
NG_011829.2:g.2398A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000344887.10:c.626A>C MANE Select ENSP00000341838.5:p.Glu209Ala
ENST00000665070.1:c.659A>C ENSP00000499482.1:p.Glu220Ala
ENST00000344887.9:c.626A>C ENSP00000341838.5:p.Glu209Ala
ENST00000585806.5:n.625A>C
ENST00000588882.1:c.551A>C ENSP00000466729.1:p.Glu184Ala
ENST00000589864.1:n.454A>C
NM_000363.4:c.626A>C , LRG_432t1:c.626A>C NP_000354.4:p.Glu209Ala
NM_000363.5:c.626A>C MANE Select NP_000354.4:p.Glu209Ala