Canonical Allele Identifier: CA021328
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 165526
ClinVar RCV Id: RCV000152091 RCV000798666
dbSNP Id: rs545441942
ExAC: 19:55667684 A / G
gnomAD v2: 19-55667684-A-G
gnomAD v3: 19-55156316-A-G
gnomAD v4: 19-55156316-A-G
MyVariant Identifiers: chr19:g.55667684A>G (hg19) chr19:g.55156316A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55156316A>G , CM000681.2:g.55156316A>G GRCh38
NC_000019.9:g.55667684A>G , CM000681.1:g.55667684A>G GRCh37
NC_000019.8:g.60359496A>G NCBI36
NG_007866.2:g.6417T>C , LRG_432:g.6417T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000344887.10:c.167T>C MANE Select ENSP00000341838.5:p.Ile56Thr
ENST00000665070.1:c.167T>C ENSP00000499482.1:p.Ile56Thr
ENST00000344887.9:c.167T>C ENSP00000341838.5:p.Ile56Thr
ENST00000585806.5:n.166T>C
ENST00000586669.5:n.175T>C
ENST00000586858.1:c.130T>C ENSP00000465258.1:p.Leu44=
ENST00000587176.5:n.351T>C
ENST00000587871.1:c.786T>C
ENST00000588882.1:c.92T>C ENSP00000466729.1:p.Ile31Thr
ENST00000590463.1:n.339T>C
NM_000363.4:c.167T>C , LRG_432t1:c.167T>C NP_000354.4:p.Ile56Thr
NM_000363.5:c.167T>C MANE Select NP_000354.4:p.Ile56Thr
Search 100 bp 5'
Search 100 bp 3'