Canonical Allele Identifier: CA051184

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 385537
• ClinVar RCV Id: RCV000440726 ; RCV002059558
• dbSNP Id: rs749136271
• ExAC: 19:55666172 A / G
• gnomAD v2: 19-55666172-A-G
• gnomAD v4: 19-55154804-A-G
• MyVariant Identifiers: chr19:g.55666172A>G (hg19) ; chr19:g.55154804A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55154804A>G , CM000681.2:g.55154804A>G	GRCh38
NC_000019.9:g.55666172A>G , CM000681.1:g.55666172A>G	GRCh37
NC_000019.8:g.60357984A>G	NCBI36
NG_007866.2:g.7929T>C , LRG_432:g.7929T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344887.10:c.309T>C MANE Select	ENSP00000341838.5:p.Arg103=
ENST00000665070.1:c.309T>C	ENSP00000499482.1:p.Arg103=
ENST00000344887.9:c.309T>C	ENSP00000341838.5:p.Arg103=
ENST00000585806.5:n.308T>C
ENST00000586669.5:n.317T>C
ENST00000587176.5:n.493T>C
ENST00000587871.1:c.928T>C
ENST00000588882.1:c.234T>C	ENSP00000466729.1:p.Arg78=
ENST00000590463.1:n.481T>C
NM_000363.4:c.309T>C , LRG_432t1:c.309T>C	NP_000354.4:p.Arg103=
NM_000363.5:c.309T>C MANE Select	NP_000354.4:p.Arg103=