Canonical Allele Identifier: CA051770

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 922772
• ClinVar RCV Id: RCV001183017 ; RCV001664737
• dbSNP Id: rs758992431
• ExAC: 19:55663299 A / G
• gnomAD v2: 19-55663299-A-G
• gnomAD v3: 19-55151931-A-G
• gnomAD v4: 19-55151931-A-G
• MyVariant Identifiers: chr19:g.55663299A>G (hg19) ; chr19:g.55151931A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55151931A>G , CM000681.2:g.55151931A>G	GRCh38
NC_000019.9:g.55663299A>G , CM000681.1:g.55663299A>G	GRCh37
NC_000019.8:g.60355111A>G	NCBI36
NG_007866.2:g.10802T>C , LRG_432:g.10802T>C
NG_011829.2:g.2308T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000344887.10:c.550-14T>C MANE Select	ENSP00000341838.5:n.550-14T>C
ENST00000665070.1:c.583-14T>C	ENSP00000499482.1:n.583-14T>C
ENST00000344887.9:c.550-14T>C	ENSP00000341838.5:n.550-14T>C
ENST00000585806.5:n.549-14T>C
ENST00000588882.1:c.475-14T>C	ENSP00000466729.1:n.475-14T>C
ENST00000589864.1:n.378-14T>C
NM_000363.4:c.550-14T>C , LRG_432t1:c.550-14T>C	NP_000354.4:n.550-14T>C
NM_000363.5:c.550-14T>C MANE Select	NP_000354.4:n.550-14T>C