Canonical Allele Identifier: CA407440555

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 2794495
• ClinVar RCV Id: RCV003749216
• dbSNP Id: rs397516348
• gnomAD v4: 19-55154151-G-A
• MyVariant Identifiers: chr19:g.55665519G>A (hg19) ; chr19:g.55154151G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344887.10:c.428C>T MANE Select	ENSP00000341838.5:p.Thr143Ile
ENST00000665070.1:c.461C>T	ENSP00000499482.1:p.Thr154Ile
ENST00000344887.9:c.428C>T	ENSP00000341838.5:p.Thr143Ile
ENST00000585806.5:n.427C>T
ENST00000586669.5:n.436C>T
ENST00000588882.1:c.353C>T	ENSP00000466729.1:p.Thr118Ile
ENST00000589864.1:n.256C>T
NM_000363.4:c.428C>T , LRG_432t1:c.428C>T	NP_000354.4:p.Thr143Ile
NM_000363.5:c.428C>T MANE Select	NP_000354.4:p.Thr143Ile