Canonical Allele Identifier: CA2438538

Gene: TNNC1

Linked Data

• ClinVar Variation Id: 496210
• ClinVar RCV Id: RCV000589132 ; RCV001239466 ; RCV001798908
• dbSNP Id: rs143020831
• ExAC: 3:52485772 C / A
• gnomAD v2: 3-52485772-C-A
• gnomAD v4: 3-52451756-C-A
• MyVariant Identifiers: chr3:g.52485772C>A (hg19) ; chr3:g.52451756C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52451756C>A , CM000665.2:g.52451756C>A	GRCh38
NC_000003.11:g.52485772C>A , CM000665.1:g.52485772C>A	GRCh37
NC_000003.10:g.52460812C>A	NCBI36
NG_008963.1:g.7286G>T , LRG_378:g.7286G>T
NG_033112.1:g.1249C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232975.8:c.305G>T MANE Select	ENSP00000232975.3:p.Arg102Leu
ENST00000232975.7:c.305G>T	ENSP00000232975.3:p.Arg102Leu
ENST00000461086.1:n.236G>T
ENST00000496590.1:c.173G>T	ENSP00000420596.1:p.Arg58Leu
NM_003280.2:c.305G>T , LRG_378t1:c.305G>T	NP_003271.1:p.Arg102Leu
NM_003280.3:c.305G>T MANE Select	NP_003271.1:p.Arg102Leu