Canonical Allele Identifier: CA022092

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 12434
• ClinVar RCV Id: RCV000013247 ; RCV001851817 ; RCV002354158
• dbSNP Id: rs267607128
• gnomAD v4: 19-55157097-G-A
• MyVariant Identifiers: chr19:g.55668465G>A (hg19) ; chr19:g.55157097G>A (hg38)
• PubMed: PMID:16267253

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55157097G>A , CM000681.2:g.55157097G>A	GRCh38
NC_000019.9:g.55668465G>A , CM000681.1:g.55668465G>A	GRCh37
NC_000019.8:g.60360277G>A	NCBI36
NG_007866.2:g.5636C>T , LRG_432:g.5636C>T
NG_032759.1:g.14626C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344887.10:c.61C>T MANE Select	ENSP00000341838.5:p.Arg21Cys
ENST00000665070.1:c.61C>T	ENSP00000499482.1:p.Arg21Cys
ENST00000344887.9:c.61C>T	ENSP00000341838.5:p.Arg21Cys
ENST00000586446.1:n.203C>T
ENST00000586669.5:n.69C>T
ENST00000587176.5:n.245C>T
ENST00000587871.1:c.680C>T
ENST00000590463.1:n.233C>T
NM_000363.4:c.61C>T , LRG_432t1:c.61C>T	NP_000354.4:p.Arg21Cys
NM_000363.5:c.61C>T MANE Select	NP_000354.4:p.Arg21Cys