Canonical Allele Identifier: CA021520
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 43375
ClinVar RCV Id: RCV001179078 RCV001256760 RCV001333392 RCV002504885 RCV003318342
dbSNP Id: rs184709702
ExAC: 19:55666125 G / T
gnomAD v2: 19-55666125-G-T
gnomAD v3: 19-55154757-G-T
gnomAD v4: 19-55154757-G-T
MyVariant Identifiers: chr19:g.55666125G>T (hg19) chr19:g.55154757G>T (hg38)
PubMed: PMID:24503780 PMID:25524337 PMID:26169204 PMID:27532257
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55154757G>T , CM000681.2:g.55154757G>T GRCh38
NC_000019.9:g.55666125G>T , CM000681.1:g.55666125G>T GRCh37
NC_000019.8:g.60357937G>T NCBI36
NG_007866.2:g.7976C>A , LRG_432:g.7976C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000344887.10:c.356C>A MANE Select ENSP00000341838.5:p.Thr119Asn
ENST00000665070.1:c.356C>A ENSP00000499482.1:p.Thr119Asn
ENST00000344887.9:c.356C>A ENSP00000341838.5:p.Thr119Asn
ENST00000585806.5:n.355C>A
ENST00000586669.5:n.364C>A
ENST00000587176.5:n.540C>A
ENST00000587871.1:c.975C>A
ENST00000588882.1:c.281C>A ENSP00000466729.1:p.Thr94Asn
ENST00000590463.1:n.528C>A
NM_000363.4:c.356C>A , LRG_432t1:c.356C>A NP_000354.4:p.Thr119Asn
NM_000363.5:c.356C>A MANE Select NP_000354.4:p.Thr119Asn
Search 100 bp 5'
Search 100 bp 3'