Canonical Allele Identifier: CA16608300
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 383149
ClinVar RCV Id: RCV000422803 RCV001055929
dbSNP Id: rs1057521530
gnomAD v3: 19-55154086-C-A
gnomAD v4: 19-55154086-C-A
MyVariant Identifiers: chr19:g.55665454C>A (hg19) chr19:g.55154086C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55154086C>A , CM000681.2:g.55154086C>A GRCh38
NC_000019.9:g.55665454C>A , CM000681.1:g.55665454C>A GRCh37
NC_000019.8:g.60357266C>A NCBI36
NG_007866.2:g.8647G>T , LRG_432:g.8647G>T
NG_011829.2:g.153G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344887.10:c.493G>T MANE Select ENSP00000341838.5:p.Glu165Ter
ENST00000665070.1:c.526G>T ENSP00000499482.1:p.Glu176Ter
ENST00000344887.9:c.493G>T ENSP00000341838.5:p.Glu165Ter
ENST00000585806.5:n.492G>T
ENST00000588882.1:c.418G>T ENSP00000466729.1:p.Glu140Ter
ENST00000589864.1:n.321G>T
NM_000363.4:c.493G>T , LRG_432t1:c.493G>T NP_000354.4:p.Glu165Ter
NM_000363.5:c.493G>T MANE Select NP_000354.4:p.Glu165Ter
Search 100 bp 5'
Search 100 bp 3'