Canonical Allele Identifier: CA051282

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 1464755
• ClinVar RCV Id: RCV001998033 ; RCV002458897
• dbSNP Id: rs762692450
• ExAC: 19:55666140 A / G
• gnomAD v2: 19-55666140-A-G
• gnomAD v3: 19-55154772-A-G
• gnomAD v4: 19-55154772-A-G
• MyVariant Identifiers: chr19:g.55666140A>G (hg19) ; chr19:g.55154772A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55154772A>G , CM000681.2:g.55154772A>G	GRCh38
NC_000019.9:g.55666140A>G , CM000681.1:g.55666140A>G	GRCh37
NC_000019.8:g.60357952A>G	NCBI36
NG_007866.2:g.7961T>C , LRG_432:g.7961T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344887.10:c.341T>C MANE Select	ENSP00000341838.5:p.Ile114Thr
ENST00000665070.1:c.341T>C	ENSP00000499482.1:p.Ile114Thr
ENST00000344887.9:c.341T>C	ENSP00000341838.5:p.Ile114Thr
ENST00000585806.5:n.340T>C
ENST00000586669.5:n.349T>C
ENST00000587176.5:n.525T>C
ENST00000587871.1:c.960T>C
ENST00000588882.1:c.266T>C	ENSP00000466729.1:p.Ile89Thr
ENST00000590463.1:n.513T>C
NM_000363.4:c.341T>C , LRG_432t1:c.341T>C	NP_000354.4:p.Ile114Thr
NM_000363.5:c.341T>C MANE Select	NP_000354.4:p.Ile114Thr