Canonical Allele Identifier: CA407440719

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 2126851
• ClinVar RCV Id: RCV003051870
• MyVariant Identifiers: chr19:g.55665550A>G (hg19) ; chr19:g.55154182A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55154182A>G , CM000681.2:g.55154182A>G	GRCh38
NC_000019.9:g.55665550A>G , CM000681.1:g.55665550A>G	GRCh37
NC_000019.8:g.60357362A>G	NCBI36
NG_007866.2:g.8551T>C , LRG_432:g.8551T>C
NG_011829.2:g.57T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000344887.10:c.397T>C MANE Select	ENSP00000341838.5:p.Phe133Leu
ENST00000665070.1:c.430T>C	ENSP00000499482.1:p.Phe144Leu
ENST00000344887.9:c.397T>C	ENSP00000341838.5:p.Phe133Leu
ENST00000585806.5:n.396T>C
ENST00000586669.5:n.405T>C
ENST00000588882.1:c.322T>C	ENSP00000466729.1:p.Phe108Leu
ENST00000589864.1:n.225T>C
NM_000363.4:c.397T>C , LRG_432t1:c.397T>C	NP_000354.4:p.Phe133Leu
NM_000363.5:c.397T>C MANE Select	NP_000354.4:p.Phe133Leu