Canonical Allele Identifier: CA021727

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 188675
• ClinVar RCV Id: RCV000168951 ; RCV000874802 ; RCV001180806 ; RCV002336386 ; RCV004552943
• dbSNP Id: rs747756509
• ExAC: 19:55665476 C / T
• gnomAD v2: 19-55665476-C-T
• gnomAD v3: 19-55154108-C-T
• gnomAD v4: 19-55154108-C-T
• MyVariant Identifiers: chr19:g.55665476C>T (hg19) ; chr19:g.55154108C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55154108C>T , CM000681.2:g.55154108C>T	GRCh38
NC_000019.9:g.55665476C>T , CM000681.1:g.55665476C>T	GRCh37
NC_000019.8:g.60357288C>T	NCBI36
NG_007866.2:g.8625G>A , LRG_432:g.8625G>A
NG_011829.2:g.131G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344887.10:c.471G>A MANE Select	ENSP00000341838.5:p.Ala157=
ENST00000665070.1:c.504G>A	ENSP00000499482.1:p.Ala168=
ENST00000344887.9:c.471G>A	ENSP00000341838.5:p.Ala157=
ENST00000585806.5:n.470G>A
ENST00000588882.1:c.396G>A	ENSP00000466729.1:p.Ala132=
ENST00000589864.1:n.299G>A
NM_000363.4:c.471G>A , LRG_432t1:c.471G>A	NP_000354.4:p.Ala157=
NM_000363.5:c.471G>A MANE Select	NP_000354.4:p.Ala157=