Canonical Allele Identifier: CA022031

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 43397
• ClinVar RCV Id: RCV000013240 ; RCV000036309 ; RCV000769534 ; RCV001753445 ; RCV002513379
• dbSNP Id: rs397516359
• ExAC: 19:55668953 G / A
• gnomAD v2: 19-55668953-G-A
• gnomAD v3: 19-55157585-G-A
• gnomAD v4: 19-55157585-G-A
• MyVariant Identifiers: chr19:g.55668953G>A (hg19) ; chr19:g.55157585G>A (hg38)
• PubMed: PMID:15070570 ; PMID:19590045 ; PMID:22940544

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55157585G>A , CM000681.2:g.55157585G>A	GRCh38
NC_000019.9:g.55668953G>A , CM000681.1:g.55668953G>A	GRCh37
NC_000019.8:g.60360765G>A	NCBI36
NG_007866.2:g.5148C>T , LRG_432:g.5148C>T
NG_032759.1:g.14138C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344887.10:c.5C>T MANE Select	ENSP00000341838.5:p.Ala2Val
ENST00000665070.1:c.5C>T	ENSP00000499482.1:p.Ala2Val
ENST00000344887.9:c.5C>T	ENSP00000341838.5:p.Ala2Val
ENST00000586446.1:n.148C>T
ENST00000587176.5:n.189C>T
ENST00000587871.1:c.625C>T
ENST00000590463.1:n.132C>T
NM_000363.4:c.5C>T , LRG_432t1:c.5C>T	NP_000354.4:p.Ala2Val
NM_000363.5:c.5C>T MANE Select	NP_000354.4:p.Ala2Val