Canonical Allele Identifier: CA022019

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 177694
• ClinVar RCV Id: RCV000628864 ; RCV000518842 ; RCV000623545 ; RCV002354364 ; RCV003486687
• dbSNP Id: rs727504285
• gnomAD v3: 19-55151875-G-C
• gnomAD v4: 19-55151875-G-C
• MyVariant Identifiers: chr19:g.55663243G>C (hg19) ; chr19:g.55151875G>C (hg38)
• PubMed: PMID:19033660 ; PMID:19754353 ; PMID:19914256 ; PMID:21839045 ; PMID:22112859 ; PMID:25524337 ; PMID:25558701

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55151875G>C , CM000681.2:g.55151875G>C	GRCh38
NC_000019.9:g.55663243G>C , CM000681.1:g.55663243G>C	GRCh37
NC_000019.8:g.60355055G>C	NCBI36
NG_007866.2:g.10858C>G , LRG_432:g.10858C>G
NG_011829.2:g.2364C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344887.10:c.592C>G MANE Select	ENSP00000341838.5:p.Leu198Val
ENST00000665070.1:c.625C>G	ENSP00000499482.1:p.Leu209Val
ENST00000344887.9:c.592C>G	ENSP00000341838.5:p.Leu198Val
ENST00000585806.5:n.591C>G
ENST00000588882.1:c.517C>G	ENSP00000466729.1:p.Leu173Val
ENST00000589864.1:n.420C>G
NM_000363.4:c.592C>G , LRG_432t1:c.592C>G	NP_000354.4:p.Leu198Val
NM_000363.5:c.592C>G MANE Select	NP_000354.4:p.Leu198Val