Canonical Allele Identifier: CA9667720

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 419596
• ClinVar RCV Id: RCV000484567 ; RCV001184324 ; RCV002489148 ; RCV001865440
• dbSNP Id: rs772607683
• ExAC: 19:55668006 A / AT
• gnomAD v2: 19-55668006-A-AT
• gnomAD v3: 19-55156638-A-AT
• gnomAD v4: 19-55156638-A-AT
• MyVariant Identifiers: chr19:g.55668007dupT (hg19) ; chr19:g.55668007_55668008insT (hg19) ; chr19:g.55668006_55668007insT (hg19) ; chr19:g.55156639dupT (hg38) ; chr19:g.55156638_55156639insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55156644dup , CM000681.2:g.55156644dup	GRCh38
NC_000019.9:g.55668012dup , CM000681.1:g.55668012dup	GRCh37
NC_000019.8:g.60359824dup	NCBI36
NG_007866.2:g.6094dup , LRG_432:g.6094dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344887.10:c.114dup MANE Select	ENSP00000341838.5:p.Ser39IlefsTer2
ENST00000665070.1:c.114dup	ENSP00000499482.1:p.Ser39IlefsTer2
ENST00000344887.9:c.114dup	ENSP00000341838.5:p.Ser39IlefsTer2
ENST00000586669.5:n.122dup
ENST00000586858.1:c.39dup	ENSP00000465258.1:p.Ser14IlefsTer2
ENST00000587176.5:n.298dup
ENST00000587871.1:c.733dup
ENST00000588882.1:c.39dup	ENSP00000466729.1:p.Ser14IlefsTer2
ENST00000590463.1:n.286dup
NM_000363.4:c.114dup , LRG_432t1:c.114dup	NP_000354.4:p.Ser39IlefsTer2
NM_000363.5:c.114dup MANE Select	NP_000354.4:p.Ser39IlefsTer2