Canonical Allele Identifier: CA051607
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 378739
ClinVar RCV Id: RCV000441523 RCV001445635 RCV004022300 RCV001184558
dbSNP Id: rs776615304
ExAC: 19:55665515 C / A
gnomAD v2: 19-55665515-C-A
gnomAD v4: 19-55154147-C-A
MyVariant Identifiers: chr19:g.55665515C>A (hg19) chr19:g.55154147C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55154147C>A , CM000681.2:g.55154147C>A GRCh38
NC_000019.9:g.55665515C>A , CM000681.1:g.55665515C>A GRCh37
NC_000019.8:g.60357327C>A NCBI36
NG_007866.2:g.8586G>T , LRG_432:g.8586G>T
NG_011829.2:g.92G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344887.10:c.432G>T MANE Select ENSP00000341838.5:p.Leu144=
ENST00000665070.1:c.465G>T ENSP00000499482.1:p.Leu155=
ENST00000344887.9:c.432G>T ENSP00000341838.5:p.Leu144=
ENST00000585806.5:n.431G>T
ENST00000586669.5:n.440G>T
ENST00000588882.1:c.357G>T ENSP00000466729.1:p.Leu119=
ENST00000589864.1:n.260G>T
NM_000363.4:c.432G>T , LRG_432t1:c.432G>T NP_000354.4:p.Leu144=
NM_000363.5:c.432G>T MANE Select NP_000354.4:p.Leu144=
Search 100 bp 5'
Search 100 bp 3'