Canonical Allele Identifier: CA407441912

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 2564935
• ClinVar RCV Id: RCV003288343 ; RCV003748483
• dbSNP Id: rs1245885836
• MyVariant Identifiers: chr19:g.55667661C>G (hg19) ; chr19:g.55156293C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344887.10:c.190G>C MANE Select	ENSP00000341838.5:p.Glu64Gln
ENST00000665070.1:c.190G>C	ENSP00000499482.1:p.Glu64Gln
ENST00000344887.9:c.190G>C	ENSP00000341838.5:p.Glu64Gln
ENST00000585806.5:n.189G>C
ENST00000586669.5:n.198G>C
ENST00000586858.1:c.153G>C	ENSP00000465258.1:p.Glu51Asp
ENST00000587176.5:n.374G>C
ENST00000587871.1:c.809G>C
ENST00000588882.1:c.115G>C	ENSP00000466729.1:p.Glu39Gln
ENST00000590463.1:n.362G>C
NM_000363.4:c.190G>C , LRG_432t1:c.190G>C	NP_000354.4:p.Glu64Gln
NM_000363.5:c.190G>C MANE Select	NP_000354.4:p.Glu64Gln