Canonical Allele Identifier: CA021357

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 179447
• ClinVar RCV Id: RCV000159255 ; RCV000223861 ; RCV001237455 ; RCV001254648
• dbSNP Id: rs727504872
• ExAC: 19:55667646 GC / G
• gnomAD v2: 19-55667646-GC-G
• gnomAD v3: 19-55156278-GC-G
• gnomAD v4: 19-55156278-GC-G
• MyVariant Identifiers: chr19:g.55667647del (hg19) ; chr19:g.55156279del (hg38)
• PubMed: PMID:9241277 ; PMID:11735257 ; PMID:18006163 ; PMID:18467357 ; PMID:18533079 ; PMID:20057144

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55156280del , CM000681.2:g.55156280del	GRCh38
NC_000019.9:g.55667648del , CM000681.1:g.55667648del	GRCh37
NC_000019.8:g.60359460del	NCBI36
NG_007866.2:g.6454del , LRG_432:g.6454del

Transcript Alleles

HGVS	Amino-acid change
ENST00000344887.10:c.204del MANE Select	ENSP00000341838.5:p.Arg69AlafsTer8
ENST00000665070.1:c.204del	ENSP00000499482.1:p.Arg69AlafsTer8
ENST00000344887.9:c.204del	ENSP00000341838.5:p.Arg69AlafsTer8
ENST00000585806.5:n.203del
ENST00000586669.5:n.212del
ENST00000586858.1:c.167del	ENSP00000465258.1:p.Gly56AlafsTer?
ENST00000587176.5:n.388del
ENST00000587871.1:c.823del
ENST00000588882.1:c.129del	ENSP00000466729.1:p.Arg44AlafsTer8
ENST00000590463.1:n.376del
NM_000363.4:c.204del , LRG_432t1:c.204del	NP_000354.4:p.Arg69AlafsTer8
NM_000363.5:c.204del MANE Select	NP_000354.4:p.Arg69AlafsTer8