Canonical Allele Identifier: CA2438509

Gene: TNNC1

Linked Data

• ClinVar Variation Id: 1734641
• ClinVar RCV Id: RCV002349351 ; RCV003102436
• dbSNP Id: rs141289590
• ExAC: 3:52485486 G / A
• gnomAD v2: 3-52485486-G-A
• gnomAD v3: 3-52451470-G-A
• gnomAD v4: 3-52451470-G-A
• MyVariant Identifiers: chr3:g.52485486G>A (hg19) ; chr3:g.52451470G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52451470G>A , CM000665.2:g.52451470G>A	GRCh38
NC_000003.11:g.52485486G>A , CM000665.1:g.52485486G>A	GRCh37
NC_000003.10:g.52460526G>A	NCBI36
NG_008963.1:g.7572C>T , LRG_378:g.7572C>T
NG_033112.1:g.963G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232975.8:c.375C>T MANE Select	ENSP00000232975.3:p.Gly125=
ENST00000232975.7:c.375C>T	ENSP00000232975.3:p.Gly125=
ENST00000461086.1:n.306C>T
ENST00000496590.1:c.243C>T	ENSP00000420596.1:p.Gly81=
NM_003280.2:c.375C>T , LRG_378t1:c.375C>T	NP_003271.1:p.Gly125=
NM_003280.3:c.375C>T MANE Select	NP_003271.1:p.Gly125=