Canonical Allele Identifier: CA407441911
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 525007
ClinVar RCV Id: RCV000628965
dbSNP Id: rs1245885836

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55156293C>A , CM000681.2:g.55156293C>A GRCh38
NC_000019.9:g.55667661C>A , CM000681.1:g.55667661C>A GRCh37
NC_000019.8:g.60359473C>A NCBI36
NG_007866.2:g.6440G>T , LRG_432:g.6440G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000344887.10:c.190G>T MANE Select ENSP00000341838.5:p.Glu64Ter
ENST00000665070.1:c.190G>T ENSP00000499482.1:p.Glu64Ter
ENST00000344887.9:c.190G>T ENSP00000341838.5:p.Glu64Ter
ENST00000585806.5:n.189G>T
ENST00000586669.5:n.198G>T
ENST00000586858.1:c.153G>T ENSP00000465258.1:p.Glu51Asp
ENST00000587176.5:n.374G>T
ENST00000587871.1:c.809G>T
ENST00000588882.1:c.115G>T ENSP00000466729.1:p.Glu39Ter
ENST00000590463.1:n.362G>T
NM_000363.4:c.190G>T , LRG_432t1:c.190G>T NP_000354.4:p.Glu64Ter
NM_000363.5:c.190G>T MANE Select NP_000354.4:p.Glu64Ter