Canonical Allele Identifier: CA021842

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 43391
• ClinVar RCV Id: RCV000036302 ; RCV000244248 ; RCV000285879 ; RCV000456574 ; RCV000776006 ; RCV001133415 ; RCV001133416 ; RCV001134895 ; RCV001134896
• dbSNP Id: rs3729841
• ExAC: 19:55665410 C / T
• gnomAD v2: 19-55665410-C-T
• gnomAD v3: 19-55154042-C-T
• gnomAD v4: 19-55154042-C-T
• MyVariant Identifiers: chr19:g.55665410C>T (hg19) ; chr19:g.55154042C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55154042C>T , CM000681.2:g.55154042C>T	GRCh38
NC_000019.9:g.55665410C>T , CM000681.1:g.55665410C>T	GRCh37
NC_000019.8:g.60357222C>T	NCBI36
NG_007866.2:g.8691G>A , LRG_432:g.8691G>A
NG_011829.2:g.197G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000344887.10:c.537G>A MANE Select	ENSP00000341838.5:p.Glu179=
ENST00000665070.1:c.570G>A	ENSP00000499482.1:p.Glu190=
ENST00000344887.9:c.537G>A	ENSP00000341838.5:p.Glu179=
ENST00000585806.5:n.536G>A
ENST00000588882.1:c.462G>A	ENSP00000466729.1:p.Glu154=
ENST00000589864.1:n.365G>A
NM_000363.4:c.537G>A , LRG_432t1:c.537G>A	NP_000354.4:p.Glu179=
NM_000363.5:c.537G>A MANE Select	NP_000354.4:p.Glu179=