Canonical Allele Identifier: CA051291

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 575867
• ClinVar RCV Id: RCV000698206 ; RCV001187428 ; RCV001333391
• dbSNP Id: rs777177571
• ExAC: 19:55666134 G / C
• gnomAD v2: 19-55666134-G-C
• gnomAD v3: 19-55154766-G-C
• gnomAD v4: 19-55154766-G-C
• MyVariant Identifiers: chr19:g.55666134G>C (hg19) ; chr19:g.55154766G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55154766G>C , CM000681.2:g.55154766G>C	GRCh38
NC_000019.9:g.55666134G>C , CM000681.1:g.55666134G>C	GRCh37
NC_000019.8:g.60357946G>C	NCBI36
NG_007866.2:g.7967C>G , LRG_432:g.7967C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344887.10:c.347C>G MANE Select	ENSP00000341838.5:p.Ala116Gly
ENST00000665070.1:c.347C>G	ENSP00000499482.1:p.Ala116Gly
ENST00000344887.9:c.347C>G	ENSP00000341838.5:p.Ala116Gly
ENST00000585806.5:n.346C>G
ENST00000586669.5:n.355C>G
ENST00000587176.5:n.531C>G
ENST00000587871.1:c.966C>G
ENST00000588882.1:c.272C>G	ENSP00000466729.1:p.Ala91Gly
ENST00000590463.1:n.519C>G
NM_000363.4:c.347C>G , LRG_432t1:c.347C>G	NP_000354.4:p.Ala116Gly
NM_000363.5:c.347C>G MANE Select	NP_000354.4:p.Ala116Gly