Canonical Allele Identifier: CA021816
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 165514
ClinVar RCV Id: RCV000152075
dbSNP Id: rs727503502

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55154054C>G , CM000681.2:g.55154054C>G GRCh38
NC_000019.9:g.55665422C>G , CM000681.1:g.55665422C>G GRCh37
NC_000019.8:g.60357234C>G NCBI36
NG_007866.2:g.8679G>C , LRG_432:g.8679G>C
NG_011829.2:g.185G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000344887.10:c.525G>C MANE Select ENSP00000341838.5:p.Gln175His
ENST00000665070.1:c.558G>C ENSP00000499482.1:p.Gln186His
ENST00000344887.9:c.525G>C ENSP00000341838.5:p.Gln175His
ENST00000585806.5:n.524G>C
ENST00000588882.1:c.450G>C ENSP00000466729.1:p.Gln150His
ENST00000589864.1:n.353G>C
NM_000363.4:c.525G>C , LRG_432t1:c.525G>C NP_000354.4:p.Gln175His
NM_000363.5:c.525G>C MANE Select NP_000354.4:p.Gln175His