Canonical Allele Identifier: CA021456

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 43372
• ClinVar RCV Id: RCV000036281 ; RCV000233339 ; RCV001133537 ; RCV001133538 ; RCV001133539 ; RCV001133536 ; RCV002433496 ; RCV001188353 ; RCV001711099
• dbSNP Id: rs75491697
• ExAC: 19:55667578 C / T
• gnomAD v2: 19-55667578-C-T
• gnomAD v3: 19-55156210-C-T
• gnomAD v4: 19-55156210-C-T
• MyVariant Identifiers: chr19:g.55667578C>T (hg19) ; chr19:g.55156210C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55156210C>T , CM000681.2:g.55156210C>T	GRCh38
NC_000019.9:g.55667578C>T , CM000681.1:g.55667578C>T	GRCh37
NC_000019.8:g.60359390C>T	NCBI36
NG_007866.2:g.6523G>A , LRG_432:g.6523G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344887.10:c.273G>A MANE Select	ENSP00000341838.5:p.Ala91=
ENST00000665070.1:c.273G>A	ENSP00000499482.1:p.Ala91=
ENST00000344887.9:c.273G>A	ENSP00000341838.5:p.Ala91=
ENST00000585806.5:n.272G>A
ENST00000586669.5:n.281G>A
ENST00000587176.5:n.457G>A
ENST00000587871.1:c.892G>A
ENST00000588882.1:c.198G>A	ENSP00000466729.1:p.Ala66=
ENST00000590463.1:n.445G>A
NM_000363.4:c.273G>A , LRG_432t1:c.273G>A	NP_000354.4:p.Ala91=
NM_000363.5:c.273G>A MANE Select	NP_000354.4:p.Ala91=