Canonical Allele Identifier: CA021667
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 12426
ClinVar RCV Id: RCV000013239 RCV000159222 RCV000498333 RCV001170617 RCV001254730 RCV001787387 RCV003982837
dbSNP Id: rs104894724
ExAC: 19:55665514 G / A
gnomAD v2: 19-55665514-G-A
gnomAD v3: 19-55154146-G-A
gnomAD v4: 19-55154146-G-A
COSMIC: COSM475295
MyVariant Identifiers: chr19:g.55665514G>A (hg19) chr19:g.55154146G>A (hg38)
PubMed: PMID:10098965 PMID:12531876 PMID:12746413 PMID:15607392 PMID:15961398 PMID:15992656 PMID:16020591 PMID:16288990 PMID:17599605 PMID:18269819 PMID:18409188 PMID:19035361 PMID:19651143 PMID:21533915
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55154146G>A , CM000681.2:g.55154146G>A GRCh38
NC_000019.9:g.55665514G>A , CM000681.1:g.55665514G>A GRCh37
NC_000019.8:g.60357326G>A NCBI36
NG_007866.2:g.8587C>T , LRG_432:g.8587C>T
NG_011829.2:g.93C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000344887.10:c.433C>T MANE Select ENSP00000341838.5:p.Arg145Trp
ENST00000665070.1:c.466C>T ENSP00000499482.1:p.Arg156Trp
ENST00000344887.9:c.433C>T ENSP00000341838.5:p.Arg145Trp
ENST00000585806.5:n.432C>T
ENST00000586669.5:n.441C>T
ENST00000588882.1:c.358C>T ENSP00000466729.1:p.Arg120Trp
ENST00000589864.1:n.261C>T
NM_000363.4:c.433C>T , LRG_432t1:c.433C>T NP_000354.4:p.Arg145Trp
NM_000363.5:c.433C>T MANE Select NP_000354.4:p.Arg145Trp
Search 100 bp 5'
Search 100 bp 3'