Canonical Allele Identifier: CA021297

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 43362
• ClinVar RCV Id: RCV000036270 ; RCV000349636 ; RCV000308612 ; RCV000336879 ; RCV000343660 ; RCV000390301 ; RCV001130710 ; RCV001130712 ; RCV001130711 ; RCV001170844 ; RCV001723610
• dbSNP Id: rs73617692
• ExAC: 19:55667958 C / T
• gnomAD v2: 19-55667958-C-T
• gnomAD v3: 19-55156590-C-T
• gnomAD v4: 19-55156590-C-T
• MyVariant Identifiers: chr19:g.55667958C>T (hg19) ; chr19:g.55156590C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55156590C>T , CM000681.2:g.55156590C>T	GRCh38
NC_000019.9:g.55667958C>T , CM000681.1:g.55667958C>T	GRCh37
NC_000019.8:g.60359770C>T	NCBI36
NG_007866.2:g.6143G>A , LRG_432:g.6143G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344887.10:c.150+13G>A MANE Select	ENSP00000341838.5:n.150+13G>A
ENST00000665070.1:c.150+13G>A	ENSP00000499482.1:n.150+13G>A
ENST00000344887.9:c.150+13G>A	ENSP00000341838.5:n.150+13G>A
ENST00000586669.5:n.158+13G>A
ENST00000586858.1:c.75+13G>A	ENSP00000465258.1:n.75+13G>A
ENST00000587176.5:n.334+13G>A
ENST00000587871.1:c.769+13G>A
ENST00000588882.1:c.75+13G>A	ENSP00000466729.1:n.75+13G>A
ENST00000590463.1:n.322+13G>A
NM_000363.4:c.150+13G>A , LRG_432t1:c.150+13G>A	NP_000354.4:n.150+13G>A
NM_000363.5:c.150+13G>A MANE Select	NP_000354.4:n.150+13G>A