Canonical Allele Identifier: CA10577115

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 229332
• ClinVar RCV Id: RCV000216567
• dbSNP Id: rs876658023
• gnomAD v4: 19-55154040-TC-T
• MyVariant Identifiers: chr19:g.55665409del (hg19) ; chr19:g.55154041del (hg38)
• PubMed: PMID:18006163 ; PMID:18467357 ; PMID:18533079 ; PMID:21835320

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55154042del , CM000681.2:g.55154042del	GRCh38
NC_000019.9:g.55665410del , CM000681.1:g.55665410del	GRCh37
NC_000019.8:g.60357222del	NCBI36
NG_007866.2:g.8692del , LRG_432:g.8692del
NG_011829.2:g.198del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344887.10:c.538del MANE Select	ENSP00000341838.5:p.Asp180ThrfsTer19
ENST00000665070.1:c.571del	ENSP00000499482.1:p.Asp191ThrfsTer19
ENST00000344887.9:c.538del	ENSP00000341838.5:p.Asp180ThrfsTer19
ENST00000585806.5:n.537del
ENST00000588882.1:c.463del	ENSP00000466729.1:p.Asp155ThrfsTer19
ENST00000589864.1:n.366del
NM_000363.4:c.538del , LRG_432t1:c.538del	NP_000354.4:p.Asp180ThrfsTer19
NM_000363.5:c.538del MANE Select	NP_000354.4:p.Asp180ThrfsTer19