Canonical Allele Identifier: CA021778

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 179285
• ClinVar RCV Id: RCV000157530 ; RCV000159231 ; RCV000456293 ; RCV001254049
• dbSNP Id: rs727503504
• gnomAD v4: 19-55154071-G-A
• MyVariant Identifiers: chr19:g.55665439G>A (hg19) ; chr19:g.55154071G>A (hg38)
• PubMed: PMID:20031618

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344887.10:c.508C>T MANE Select	ENSP00000341838.5:p.Arg170Trp
ENST00000665070.1:c.541C>T	ENSP00000499482.1:p.Arg181Trp
ENST00000344887.9:c.508C>T	ENSP00000341838.5:p.Arg170Trp
ENST00000585806.5:n.507C>T
ENST00000588882.1:c.433C>T	ENSP00000466729.1:p.Arg145Trp
ENST00000589864.1:n.336C>T
NM_000363.4:c.508C>T , LRG_432t1:c.508C>T	NP_000354.4:p.Arg170Trp
NM_000363.5:c.508C>T MANE Select	NP_000354.4:p.Arg170Trp