Canonical Allele Identifier: CA021498

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 181577
• ClinVar RCV Id: RCV000159214 ; RCV000617578 ; RCV000800572 ; RCV001190438 ; RCV003137689
• dbSNP Id: rs371000425
• ExAC: 19:55666173 C / T
• gnomAD v2: 19-55666173-C-T
• gnomAD v3: 19-55154805-C-T
• gnomAD v4: 19-55154805-C-T
• COSMIC: COSM267609
• MyVariant Identifiers: chr19:g.55666173C>T (hg19) ; chr19:g.55154805C>T (hg38)
• PubMed: PMID:22958901

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55154805C>T , CM000681.2:g.55154805C>T	GRCh38
NC_000019.9:g.55666173C>T , CM000681.1:g.55666173C>T	GRCh37
NC_000019.8:g.60357985C>T	NCBI36
NG_007866.2:g.7928G>A , LRG_432:g.7928G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344887.10:c.308G>A MANE Select	ENSP00000341838.5:p.Arg103His
ENST00000665070.1:c.308G>A	ENSP00000499482.1:p.Arg103His
ENST00000344887.9:c.308G>A	ENSP00000341838.5:p.Arg103His
ENST00000585806.5:n.307G>A
ENST00000586669.5:n.316G>A
ENST00000587176.5:n.492G>A
ENST00000587871.1:c.927G>A
ENST00000588882.1:c.233G>A	ENSP00000466729.1:p.Arg78His
ENST00000590463.1:n.480G>A
NM_000363.4:c.308G>A , LRG_432t1:c.308G>A	NP_000354.4:p.Arg103His
NM_000363.5:c.308G>A MANE Select	NP_000354.4:p.Arg103His