Canonical Allele Identifier: CA022012
Gene: TNNI3 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.55151881C>A
GRCh37 chr19:g.55663249C>A
Revel Score:
ENST00000344887 (MANE Select) 0.847
gnomAD v4:
chr19-55151881-C-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar Allele:
176210
ClinVar RCV:
RCV000156282
RCV000770564
RCV001850152
ClinVar Variation:
179492
dbSNP:
104894727
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55151881C>A , CM000681.2:g.55151881C>A GRCh38
NC_000019.9:g.55663249C>A , CM000681.1:g.55663249C>A GRCh37
NC_000019.8:g.60355061C>A NCBI36
NG_007866.2:g.10852G>T , LRG_432:g.10852G>T
NG_011829.2:g.2358G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344887.10:c.586G>T MANE Select ENSP00000341838.5:p.Asp196Tyr
ENST00000665070.1:c.619G>T ENSP00000499482.1:p.Asp207Tyr
ENST00000344887.9:c.586G>T ENSP00000341838.5:p.Asp196Tyr
ENST00000585806.5:n.585G>T
ENST00000588882.1:c.511G>T ENSP00000466729.1:p.Asp171Tyr
ENST00000589864.1:n.414G>T
NM_000363.4:c.586G>T , LRG_432t1:c.586G>T NP_000354.4:p.Asp196Tyr
NM_000363.5:c.586G>T MANE Select NP_000354.4:p.Asp196Tyr
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