Canonical Allele Identifier: CA310145061
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 675756
ClinVar RCV Id: RCV000835130
dbSNP Id: rs114949974
gnomAD v2: 19-55663442-A-T
gnomAD v3: 19-55152074-A-T
gnomAD v4: 19-55152074-A-T
MyVariant Identifiers: chr19:g.55663442A>T (hg19) chr19:g.55152074A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55152074A>T , CM000681.2:g.55152074A>T GRCh38
NC_000019.9:g.55663442A>T , CM000681.1:g.55663442A>T GRCh37
NC_000019.8:g.60355254A>T NCBI36
NG_007866.2:g.10659T>A , LRG_432:g.10659T>A
NG_011829.2:g.2165T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344887.10:c.550-157T>A MANE Select ENSP00000341838.5:n.550-157T>A
ENST00000665070.1:c.583-157T>A ENSP00000499482.1:n.583-157T>A
ENST00000344887.9:c.550-157T>A ENSP00000341838.5:n.550-157T>A
ENST00000585806.5:n.549-157T>A
ENST00000588882.1:c.475-157T>A ENSP00000466729.1:n.475-157T>A
ENST00000589864.1:n.378-157T>A
NM_000363.4:c.550-157T>A , LRG_432t1:c.550-157T>A NP_000354.4:n.550-157T>A
NM_000363.5:c.550-157T>A MANE Select NP_000354.4:n.550-157T>A
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