Canonical Allele Identifier: CA9667714
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 893714
ClinVar RCV Id: RCV001132494 RCV001132495 RCV001132496 RCV001132497
dbSNP Id: rs1182120462
ExAC: 19:55663158 T / C
gnomAD v2: 19-55663158-T-C
gnomAD v3: 19-55151790-T-C
gnomAD v4: 19-55151790-T-C
MyVariant Identifiers: chr19:g.55663158T>C (hg19) chr19:g.55663158_55663170delinsCTCCTCAGGGCCC (hg19) chr19:g.55151790T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55151790T>C , CM000681.2:g.55151790T>C GRCh38
NC_000019.9:g.55663158T>C , CM000681.1:g.55663158T>C GRCh37
NC_000019.8:g.60354970T>C NCBI36
NG_007866.2:g.10943A>G , LRG_432:g.10943A>G
NG_011829.2:g.2449A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000344887.10:c.*44A>G MANE Select ENSP00000341838.5:n.*44A>G
ENST00000665070.1:c.*44A>G ENSP00000499482.1:n.*44A>G
ENST00000344887.9:c.*44A>G ENSP00000341838.5:n.*44A>G
ENST00000585806.5:n.676A>G
ENST00000588882.1:c.*44A>G ENSP00000466729.1:n.*44A>G
ENST00000589864.1:n.505A>G
NM_000363.4:c.*44A>G , LRG_432t1:c.*44A>G NP_000354.4:n.*44A>G
NM_000363.5:c.*44A>G MANE Select NP_000354.4:n.*44A>G
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