Canonical Allele Identifier: CA051692
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 924733
ClinVar RCV Id: RCV001186276 RCV001477086
dbSNP Id: rs764527627
ExAC: 19:55665431 G / A
gnomAD v2: 19-55665431-G-A
gnomAD v3: 19-55154063-G-A
gnomAD v4: 19-55154063-G-A
MyVariant Identifiers: chr19:g.55665431G>A (hg19) chr19:g.55154063G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55154063G>A , CM000681.2:g.55154063G>A GRCh38
NC_000019.9:g.55665431G>A , CM000681.1:g.55665431G>A GRCh37
NC_000019.8:g.60357243G>A NCBI36
NG_007866.2:g.8670C>T , LRG_432:g.8670C>T
NG_011829.2:g.176C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344887.10:c.516C>T MANE Select ENSP00000341838.5:p.His172=
ENST00000665070.1:c.549C>T ENSP00000499482.1:p.His183=
ENST00000344887.9:c.516C>T ENSP00000341838.5:p.His172=
ENST00000585806.5:n.515C>T
ENST00000588882.1:c.441C>T ENSP00000466729.1:p.His147=
ENST00000589864.1:n.344C>T
NM_000363.4:c.516C>T , LRG_432t1:c.516C>T NP_000354.4:p.His172=
NM_000363.5:c.516C>T MANE Select NP_000354.4:p.His172=
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