Canonical Allele Identifier: CA021907

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 43395
• ClinVar RCV Id: RCV000157533 ; RCV000167988 ; RCV000223924 ; RCV000620207 ; RCV000770565 ; RCV001258033
• dbSNP Id: rs397516357
• gnomAD v3: 19-55151910-C-T
• gnomAD v4: 19-55151910-C-T
• MyVariant Identifiers: chr19:g.55663278C>T (hg19) ; chr19:g.55151910C>T (hg38)
• PubMed: PMID:12707239 ; PMID:15607392 ; PMID:16020591 ; PMID:20624503 ; PMID:21310275 ; PMID:22301726 ; PMID:23540544 ; PMID:23782526 ; PMID:25351510 ; PMID:25524337 ; PMID:26169204 ; PMID:27532257

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55151910C>T , CM000681.2:g.55151910C>T	GRCh38
NC_000019.9:g.55663278C>T , CM000681.1:g.55663278C>T	GRCh37
NC_000019.8:g.60355090C>T	NCBI36
NG_007866.2:g.10823G>A , LRG_432:g.10823G>A
NG_011829.2:g.2329G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000344887.10:c.557G>A MANE Select	ENSP00000341838.5:p.Arg186Gln
ENST00000665070.1:c.590G>A	ENSP00000499482.1:p.Arg197Gln
ENST00000344887.9:c.557G>A	ENSP00000341838.5:p.Arg186Gln
ENST00000585806.5:n.556G>A
ENST00000588882.1:c.482G>A	ENSP00000466729.1:p.Arg161Gln
ENST00000589864.1:n.385G>A
NM_000363.4:c.557G>A , LRG_432t1:c.557G>A	NP_000354.4:p.Arg186Gln
NM_000363.5:c.557G>A MANE Select	NP_000354.4:p.Arg186Gln