Canonical Allele Identifier: CA051839

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 546467
• ClinVar RCV Id: RCV000658349 ; RCV001177934 ; RCV001788314 ; RCV001855374
• dbSNP Id: rs760978512
• ExAC: 19:55663279 G / A
• gnomAD v2: 19-55663279-G-A
• gnomAD v3: 19-55151911-G-A
• gnomAD v4: 19-55151911-G-A
• COSMIC: COSM1001401
• MyVariant Identifiers: chr19:g.55663279G>A (hg19) ; chr19:g.55151911G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55151911G>A , CM000681.2:g.55151911G>A	GRCh38
NC_000019.9:g.55663279G>A , CM000681.1:g.55663279G>A	GRCh37
NC_000019.8:g.60355091G>A	NCBI36
NG_007866.2:g.10822C>T , LRG_432:g.10822C>T
NG_011829.2:g.2328C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000344887.10:c.556C>T MANE Select	ENSP00000341838.5:p.Arg186Trp
ENST00000665070.1:c.589C>T	ENSP00000499482.1:p.Arg197Trp
ENST00000344887.9:c.556C>T	ENSP00000341838.5:p.Arg186Trp
ENST00000585806.5:n.555C>T
ENST00000588882.1:c.481C>T	ENSP00000466729.1:p.Arg161Trp
ENST00000589864.1:n.384C>T
NM_000363.4:c.556C>T , LRG_432t1:c.556C>T	NP_000354.4:p.Arg186Trp
NM_000363.5:c.556C>T MANE Select	NP_000354.4:p.Arg186Trp