Canonical Allele Identifier: CA407440281
Gene: TNNI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 524962
ClinVar RCV Id: RCV000628887
dbSNP Id: rs1555863480

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.55154059T>G , CM000681.2:g.55154059T>G GRCh38
NC_000019.9:g.55665427T>G , CM000681.1:g.55665427T>G GRCh37
NC_000019.8:g.60357239T>G NCBI36
NG_007866.2:g.8674A>C , LRG_432:g.8674A>C
NG_011829.2:g.180A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000344887.10:c.520A>C MANE Select ENSP00000341838.5:p.Lys174Gln
ENST00000665070.1:c.553A>C ENSP00000499482.1:p.Lys185Gln
ENST00000344887.9:c.520A>C ENSP00000341838.5:p.Lys174Gln
ENST00000585806.5:n.519A>C
ENST00000588882.1:c.445A>C ENSP00000466729.1:p.Lys149Gln
ENST00000589864.1:n.348A>C
NM_000363.4:c.520A>C , LRG_432t1:c.520A>C NP_000354.4:p.Lys174Gln
NM_000363.5:c.520A>C MANE Select NP_000354.4:p.Lys174Gln