Canonical Allele Identifier: CA407440581
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1473426
ClinVar RCV Id: RCV002005253 RCV002223334
dbSNP Id: rs397516347
gnomAD v4: 19-55154157-C-A
MyVariant Identifiers: chr19:g.55665525C>A (hg19) chr19:g.55154157C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55154157C>A , CM000681.2:g.55154157C>A GRCh38
NC_000019.9:g.55665525C>A , CM000681.1:g.55665525C>A GRCh37
NC_000019.8:g.60357337C>A NCBI36
NG_007866.2:g.8576G>T , LRG_432:g.8576G>T
NG_011829.2:g.82G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344887.10:c.422G>T MANE Select ENSP00000341838.5:p.Arg141Leu
ENST00000665070.1:c.455G>T ENSP00000499482.1:p.Arg152Leu
ENST00000344887.9:c.422G>T ENSP00000341838.5:p.Arg141Leu
ENST00000585806.5:n.421G>T
ENST00000586669.5:n.430G>T
ENST00000588882.1:c.347G>T ENSP00000466729.1:p.Arg116Leu
ENST00000589864.1:n.250G>T
NM_000363.4:c.422G>T , LRG_432t1:c.422G>T NP_000354.4:p.Arg141Leu
NM_000363.5:c.422G>T MANE Select NP_000354.4:p.Arg141Leu
Search 100 bp 5'
Search 100 bp 3'