Canonical Allele Identifier: CA021534

Gene: TNNI3

Linked Data

• ClinVar Variation Id: 137687
• ClinVar RCV Id: RCV000125567 ; RCV000266896 ; RCV000297016 ; RCV000324401 ; RCV000377855 ; RCV000381216 ; RCV001130128 ; RCV001135167 ; RCV001135168
• dbSNP Id: rs3729707
• ExAC: 19:55668992 G / T
• gnomAD v2: 19-55668992-G-T
• gnomAD v3: 19-55157624-G-T
• gnomAD v4: 19-55157624-G-T
• MyVariant Identifiers: chr19:g.55668992G>T (hg19) ; chr19:g.55157624G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55157624G>T , CM000681.2:g.55157624G>T	GRCh38
NC_000019.9:g.55668992G>T , CM000681.1:g.55668992G>T	GRCh37
NC_000019.8:g.60360804G>T	NCBI36
NG_007866.2:g.5109C>A , LRG_432:g.5109C>A
NG_032759.1:g.14099C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000344887.10:c.-35C>A MANE Select	ENSP00000341838.5:n.-35C>A
ENST00000665070.1:c.-35C>A	ENSP00000499482.1:n.-35C>A
ENST00000344887.9:c.-35C>A	ENSP00000341838.5:n.-35C>A
ENST00000586446.1:n.109C>A
ENST00000587176.5:n.150C>A
ENST00000587871.1:c.586C>A
ENST00000590463.1:n.93C>A
NM_000363.4:c.-35C>A , LRG_432t1:c.-35C>A	NP_000354.4:n.-35C>A
NM_000363.5:c.-35C>A MANE Select	NP_000354.4:n.-35C>A