Canonical Allele Identifier: CA310144864
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 695198
ClinVar RCV Id: RCV000860572 RCV001184812 RCV001413851
dbSNP Id: rs796474405
gnomAD v2: 19-55663229-C-T
gnomAD v3: 19-55151861-C-T
gnomAD v4: 19-55151861-C-T
MyVariant Identifiers: chr19:g.55663229C>T (hg19) chr19:g.55151861C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55151861C>T , CM000681.2:g.55151861C>T GRCh38
NC_000019.9:g.55663229C>T , CM000681.1:g.55663229C>T GRCh37
NC_000019.8:g.60355041C>T NCBI36
NG_007866.2:g.10872G>A , LRG_432:g.10872G>A
NG_011829.2:g.2378G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000344887.10:c.606G>A MANE Select ENSP00000341838.5:p.Glu202=
ENST00000665070.1:c.639G>A ENSP00000499482.1:p.Glu213=
ENST00000344887.9:c.606G>A ENSP00000341838.5:p.Glu202=
ENST00000585806.5:n.605G>A
ENST00000588882.1:c.531G>A ENSP00000466729.1:p.Glu177=
ENST00000589864.1:n.434G>A
NM_000363.4:c.606G>A , LRG_432t1:c.606G>A NP_000354.4:p.Glu202=
NM_000363.5:c.606G>A MANE Select NP_000354.4:p.Glu202=
Search 100 bp 5'
Search 100 bp 3'