Canonical Allele Identifier: CA051651
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 381300
ClinVar RCV Id: RCV000434454 RCV000525062 RCV001188950 RCV002339006
dbSNP Id: rs749880457
ExAC: 19:55665473 C / G
gnomAD v2: 19-55665473-C-G
gnomAD v3: 19-55154105-C-G
gnomAD v4: 19-55154105-C-G
MyVariant Identifiers: chr19:g.55665473C>G (hg19) chr19:g.55154105C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55154105C>G , CM000681.2:g.55154105C>G GRCh38
NC_000019.9:g.55665473C>G , CM000681.1:g.55665473C>G GRCh37
NC_000019.8:g.60357285C>G NCBI36
NG_007866.2:g.8628G>C , LRG_432:g.8628G>C
NG_011829.2:g.134G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344887.10:c.474G>C MANE Select ENSP00000341838.5:p.Leu158=
ENST00000665070.1:c.507G>C ENSP00000499482.1:p.Leu169=
ENST00000344887.9:c.474G>C ENSP00000341838.5:p.Leu158=
ENST00000585806.5:n.473G>C
ENST00000588882.1:c.399G>C ENSP00000466729.1:p.Leu133=
ENST00000589864.1:n.302G>C
NM_000363.4:c.474G>C , LRG_432t1:c.474G>C NP_000354.4:p.Leu158=
NM_000363.5:c.474G>C MANE Select NP_000354.4:p.Leu158=
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