Canonical Allele Identifier: CA021673
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 43384
ClinVar RCV Id: RCV000159223 RCV000200141 RCV000208273 RCV000621089 RCV000763057 RCV001178632 RCV001807758
dbSNP Id: rs397516349
ExAC: 19:55665513 C / T
gnomAD v2: 19-55665513-C-T
gnomAD v4: 19-55154145-C-T
MyVariant Identifiers: chr19:g.55665513C>T (hg19) chr19:g.55154145C>T (hg38)
PubMed: PMID:3144325 PMID:9241277 PMID:11735257 PMID:15607392 PMID:16288990 PMID:21533915 PMID:23283745 PMID:24111713 PMID:25132132 PMID:28193612
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55154145C>T , CM000681.2:g.55154145C>T GRCh38
NC_000019.9:g.55665513C>T , CM000681.1:g.55665513C>T GRCh37
NC_000019.8:g.60357325C>T NCBI36
NG_007866.2:g.8588G>A , LRG_432:g.8588G>A
NG_011829.2:g.94G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000344887.10:c.434G>A MANE Select ENSP00000341838.5:p.Arg145Gln
ENST00000665070.1:c.467G>A ENSP00000499482.1:p.Arg156Gln
ENST00000344887.9:c.434G>A ENSP00000341838.5:p.Arg145Gln
ENST00000585806.5:n.433G>A
ENST00000586669.5:n.442G>A
ENST00000588882.1:c.359G>A ENSP00000466729.1:p.Arg120Gln
ENST00000589864.1:n.262G>A
NM_000363.4:c.434G>A , LRG_432t1:c.434G>A NP_000354.4:p.Arg145Gln
NM_000363.5:c.434G>A MANE Select NP_000354.4:p.Arg145Gln
Search 100 bp 5'
Search 100 bp 3'