Canonical Allele Identifier: CA16608392
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 378932
ClinVar RCV Id: RCV000436600 RCV002502489 RCV003766205
dbSNP Id: rs1057520417
gnomAD v3: 19-55157048-A-C
gnomAD v4: 19-55157048-A-C
MyVariant Identifiers: chr19:g.55668416A>C (hg19) chr19:g.55157048A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55157048A>C , CM000681.2:g.55157048A>C GRCh38
NC_000019.9:g.55668416A>C , CM000681.1:g.55668416A>C GRCh37
NC_000019.8:g.60360228A>C NCBI36
NG_007866.2:g.5685T>G , LRG_432:g.5685T>G
NG_032759.1:g.14675T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344887.10:c.108+2T>G MANE Select ENSP00000341838.5:n.108+2T>G
ENST00000665070.1:c.108+2T>G ENSP00000499482.1:n.108+2T>G
ENST00000344887.9:c.108+2T>G ENSP00000341838.5:n.108+2T>G
ENST00000586446.1:n.252T>G
ENST00000586669.5:n.116+2T>G
ENST00000587176.5:n.292+2T>G
ENST00000587871.1:c.727+2T>G
ENST00000590463.1:n.280+2T>G
NM_000363.4:c.108+2T>G , LRG_432t1:c.108+2T>G NP_000354.4:n.108+2T>G
NM_000363.5:c.108+2T>G MANE Select NP_000354.4:n.108+2T>G
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