Canonical Allele Identifier: CA021463

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 181575
• ClinVar RCV Id: RCV000159212 ; RCV000628957 ; RCV001170620
• dbSNP Id: rs730881068
• ExAC: 19:55666189 G / A
• gnomAD v2: 19-55666189-G-A
• gnomAD v3: 19-55154821-G-A
• gnomAD v4: 19-55154821-G-A
• COSMIC: COSM4581429
• MyVariant Identifiers: chr19:g.55666189G>A (hg19) ; chr19:g.55154821G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55154821G>A , CM000681.2:g.55154821G>A	GRCh38
NC_000019.9:g.55666189G>A , CM000681.1:g.55666189G>A	GRCh37
NC_000019.8:g.60358001G>A	NCBI36
NG_007866.2:g.7912C>T , LRG_432:g.7912C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000344887.10:c.292C>T MANE Select	ENSP00000341838.5:p.Arg98Ter
ENST00000665070.1:c.292C>T	ENSP00000499482.1:p.Arg98Ter
ENST00000344887.9:c.292C>T	ENSP00000341838.5:p.Arg98Ter
ENST00000585806.5:n.291C>T
ENST00000586669.5:n.300C>T
ENST00000587176.5:n.476C>T
ENST00000587871.1:c.911C>T
ENST00000588882.1:c.217C>T	ENSP00000466729.1:p.Arg73Ter
ENST00000590463.1:n.464C>T
NM_000363.4:c.292C>T , LRG_432t1:c.292C>T	NP_000354.4:p.Arg98Ter
NM_000363.5:c.292C>T MANE Select	NP_000354.4:p.Arg98Ter