Canonical Allele Identifier: CA508989385
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 924395
ClinVar RCV Id: RCV001185685 RCV004008550 RCV004033351
dbSNP Id: rs727503504
gnomAD v4: 19-55154071-G-T
MyVariant Identifiers: chr19:g.55665439G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55154071G>T , CM000681.2:g.55154071G>T GRCh38
NC_000019.9:g.55665439G>T , CM000681.1:g.55665439G>T GRCh37
NC_000019.8:g.60357251G>T NCBI36
NG_007866.2:g.8662C>A , LRG_432:g.8662C>A
NG_011829.2:g.168C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344887.10:c.508C>A MANE Select ENSP00000341838.5:p.Arg170=
ENST00000665070.1:c.541C>A ENSP00000499482.1:p.Arg181=
ENST00000344887.9:c.508C>A ENSP00000341838.5:p.Arg170=
ENST00000585806.5:n.507C>A
ENST00000588882.1:c.433C>A ENSP00000466729.1:p.Arg145=
ENST00000589864.1:n.336C>A
NM_000363.4:c.508C>A , LRG_432t1:c.508C>A NP_000354.4:p.Arg170=
NM_000363.5:c.508C>A MANE Select NP_000354.4:p.Arg170=
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