Canonical Allele Identifier: CA407440748
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 654164
ClinVar RCV Id: RCV000810064
dbSNP Id: rs1599909289

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55154188T>C , CM000681.2:g.55154188T>C GRCh38
NC_000019.9:g.55665556T>C , CM000681.1:g.55665556T>C GRCh37
NC_000019.8:g.60357368T>C NCBI36
NG_007866.2:g.8545A>G , LRG_432:g.8545A>G
NG_011829.2:g.51A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000344887.10:c.391A>G MANE Select ENSP00000341838.5:p.Lys131Glu
ENST00000665070.1:c.424A>G ENSP00000499482.1:p.Lys142Glu
ENST00000344887.9:c.391A>G ENSP00000341838.5:p.Lys131Glu
ENST00000585806.5:n.390A>G
ENST00000586669.5:n.399A>G
ENST00000588882.1:c.316A>G ENSP00000466729.1:p.Lys106Glu
ENST00000589864.1:n.219A>G
NM_000363.4:c.391A>G , LRG_432t1:c.391A>G NP_000354.4:p.Lys131Glu
NM_000363.5:c.391A>G MANE Select NP_000354.4:p.Lys131Glu