Canonical Allele Identifier: CA051664
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 454406
ClinVar RCV Id: RCV000535232 RCV000786224 RCV001188384 RCV002341249
dbSNP Id: rs753413305
ExAC: 19:55665465 G / A
gnomAD v2: 19-55665465-G-A
gnomAD v3: 19-55154097-G-A
gnomAD v4: 19-55154097-G-A
MyVariant Identifiers: chr19:g.55665465G>A (hg19) chr19:g.55154097G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55154097G>A , CM000681.2:g.55154097G>A GRCh38
NC_000019.9:g.55665465G>A , CM000681.1:g.55665465G>A GRCh37
NC_000019.8:g.60357277G>A NCBI36
NG_007866.2:g.8636C>T , LRG_432:g.8636C>T
NG_011829.2:g.142C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344887.10:c.482C>T MANE Select ENSP00000341838.5:p.Ala161Val
ENST00000665070.1:c.515C>T ENSP00000499482.1:p.Ala172Val
ENST00000344887.9:c.482C>T ENSP00000341838.5:p.Ala161Val
ENST00000585806.5:n.481C>T
ENST00000588882.1:c.407C>T ENSP00000466729.1:p.Ala136Val
ENST00000589864.1:n.310C>T
NM_000363.4:c.482C>T , LRG_432t1:c.482C>T NP_000354.4:p.Ala161Val
NM_000363.5:c.482C>T MANE Select NP_000354.4:p.Ala161Val
Search 100 bp 5'
Search 100 bp 3'