Canonical Allele Identifier: CA021515

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 181578
• ClinVar RCV Id: RCV000159215 ; RCV000778011 ; RCV001294731 ; RCV002453555
• dbSNP Id: rs730881070
• ExAC: 19:55666141 T / C
• gnomAD v2: 19-55666141-T-C
• gnomAD v3: 19-55154773-T-C
• gnomAD v4: 19-55154773-T-C
• MyVariant Identifiers: chr19:g.55666141T>C (hg19) ; chr19:g.55154773T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55154773T>C , CM000681.2:g.55154773T>C	GRCh38
NC_000019.9:g.55666141T>C , CM000681.1:g.55666141T>C	GRCh37
NC_000019.8:g.60357953T>C	NCBI36
NG_007866.2:g.7960A>G , LRG_432:g.7960A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344887.10:c.340A>G MANE Select	ENSP00000341838.5:p.Ile114Val
ENST00000665070.1:c.340A>G	ENSP00000499482.1:p.Ile114Val
ENST00000344887.9:c.340A>G	ENSP00000341838.5:p.Ile114Val
ENST00000585806.5:n.339A>G
ENST00000586669.5:n.348A>G
ENST00000587176.5:n.524A>G
ENST00000587871.1:c.959A>G
ENST00000588882.1:c.265A>G	ENSP00000466729.1:p.Ile89Val
ENST00000590463.1:n.512A>G
NM_000363.4:c.340A>G , LRG_432t1:c.340A>G	NP_000354.4:p.Ile114Val
NM_000363.5:c.340A>G MANE Select	NP_000354.4:p.Ile114Val