Canonical Allele Identifier: CA021292
Gene: TNNI3 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55156614A>G , CM000681.2:g.55156614A>G GRCh38
NC_000019.9:g.55667982A>G , CM000681.1:g.55667982A>G GRCh37
NC_000019.8:g.60359794A>G NCBI36
NG_007866.2:g.6119T>C , LRG_432:g.6119T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344887.10:c.139T>C MANE Select ENSP00000341838.5:p.Leu47=
ENST00000665070.1:c.139T>C ENSP00000499482.1:p.Leu47=
ENST00000344887.9:c.139T>C ENSP00000341838.5:p.Leu47=
ENST00000586669.5:n.147T>C
ENST00000586858.1:c.64T>C ENSP00000465258.1:p.Leu22=
ENST00000587176.5:n.323T>C
ENST00000587871.1:c.758T>C
ENST00000588882.1:c.64T>C ENSP00000466729.1:p.Leu22=
ENST00000590463.1:n.311T>C
NM_000363.4:c.139T>C , LRG_432t1:c.139T>C NP_000354.4:p.Leu47=
NM_000363.5:c.139T>C MANE Select NP_000354.4:p.Leu47=