Canonical Allele Identifier: CA051210

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 629695
• ClinVar RCV Id: RCV000774405 ; RCV002534141
• dbSNP Id: rs750350912
• ExAC: 19:55666163 C / T
• gnomAD v2: 19-55666163-C-T
• gnomAD v3: 19-55154795-C-T
• gnomAD v4: 19-55154795-C-T
• MyVariant Identifiers: chr19:g.55666163C>T (hg19) ; chr19:g.55154795C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55154795C>T , CM000681.2:g.55154795C>T	GRCh38
NC_000019.9:g.55666163C>T , CM000681.1:g.55666163C>T	GRCh37
NC_000019.8:g.60357975C>T	NCBI36
NG_007866.2:g.7938G>A , LRG_432:g.7938G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344887.10:c.318G>A MANE Select	ENSP00000341838.5:p.Lys106=
ENST00000665070.1:c.318G>A	ENSP00000499482.1:p.Lys106=
ENST00000344887.9:c.318G>A	ENSP00000341838.5:p.Lys106=
ENST00000585806.5:n.317G>A
ENST00000586669.5:n.326G>A
ENST00000587176.5:n.502G>A
ENST00000587871.1:c.937G>A
ENST00000588882.1:c.243G>A	ENSP00000466729.1:p.Lys81=
ENST00000590463.1:n.490G>A
NM_000363.4:c.318G>A , LRG_432t1:c.318G>A	NP_000354.4:p.Lys106=
NM_000363.5:c.318G>A MANE Select	NP_000354.4:p.Lys106=