Canonical Allele Identifier: CA021641

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 43382
• ClinVar RCV Id: RCV000036291 ; RCV000159221 ; RCV000628944 ; RCV001192353 ; RCV002054586
• dbSNP Id: rs397516348
• ExAC: 19:55665519 G / T
• gnomAD v2: 19-55665519-G-T
• gnomAD v3: 19-55154151-G-T
• gnomAD v4: 19-55154151-G-T
• MyVariant Identifiers: chr19:g.55665519G>T (hg19) ; chr19:g.55154151G>T (hg38)
• PubMed: PMID:7592712 ; PMID:15774859 ; PMID:17010989 ; PMID:17872964 ; PMID:23690394

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55154151G>T , CM000681.2:g.55154151G>T	GRCh38
NC_000019.9:g.55665519G>T , CM000681.1:g.55665519G>T	GRCh37
NC_000019.8:g.60357331G>T	NCBI36
NG_007866.2:g.8582C>A , LRG_432:g.8582C>A
NG_011829.2:g.88C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000344887.10:c.428C>A MANE Select	ENSP00000341838.5:p.Thr143Asn
ENST00000665070.1:c.461C>A	ENSP00000499482.1:p.Thr154Asn
ENST00000344887.9:c.428C>A	ENSP00000341838.5:p.Thr143Asn
ENST00000585806.5:n.427C>A
ENST00000586669.5:n.436C>A
ENST00000588882.1:c.353C>A	ENSP00000466729.1:p.Thr118Asn
ENST00000589864.1:n.256C>A
NM_000363.4:c.428C>A , LRG_432t1:c.428C>A	NP_000354.4:p.Thr143Asn
NM_000363.5:c.428C>A MANE Select	NP_000354.4:p.Thr143Asn