Canonical Allele Identifier: CA407440318

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 922311
• ClinVar RCV Id: RCV001182342 ; RCV001254762 ; RCV003490099
• dbSNP Id: rs1391407750
• gnomAD v2: 19-55665447-A-G
• gnomAD v4: 19-55154079-A-G
• MyVariant Identifiers: chr19:g.55665447A>G (hg19) ; chr19:g.55154079A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55154079A>G , CM000681.2:g.55154079A>G	GRCh38
NC_000019.9:g.55665447A>G , CM000681.1:g.55665447A>G	GRCh37
NC_000019.8:g.60357259A>G	NCBI36
NG_007866.2:g.8654T>C , LRG_432:g.8654T>C
NG_011829.2:g.160T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000344887.10:c.500T>C MANE Select	ENSP00000341838.5:p.Leu167Pro
ENST00000665070.1:c.533T>C	ENSP00000499482.1:p.Leu178Pro
ENST00000344887.9:c.500T>C	ENSP00000341838.5:p.Leu167Pro
ENST00000585806.5:n.499T>C
ENST00000588882.1:c.425T>C	ENSP00000466729.1:p.Leu142Pro
ENST00000589864.1:n.328T>C
NM_000363.4:c.500T>C , LRG_432t1:c.500T>C	NP_000354.4:p.Leu167Pro
NM_000363.5:c.500T>C MANE Select	NP_000354.4:p.Leu167Pro