Canonical Allele Identifier: CA2438474
Gene: TNNC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 239537
ClinVar RCV Id: RCV001171073 RCV001439369
dbSNP Id: rs568828576
ExAC: 3:52485321 C / T
gnomAD v2: 3-52485321-C-T
gnomAD v3: 3-52451305-C-T
gnomAD v4: 3-52451305-C-T
MyVariant Identifiers: chr3:g.52485321C>T (hg19) chr3:g.52451305C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52451305C>T , CM000665.2:g.52451305C>T GRCh38
NC_000003.11:g.52485321C>T , CM000665.1:g.52485321C>T GRCh37
NC_000003.10:g.52460361C>T NCBI36
NG_008963.1:g.7737G>A , LRG_378:g.7737G>A
NG_033112.1:g.798C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000232975.8:c.456G>A MANE Select ENSP00000232975.3:p.Glu152=
ENST00000232975.7:c.456G>A ENSP00000232975.3:p.Glu152=
NM_003280.2:c.456G>A , LRG_378t1:c.456G>A NP_003271.1:p.Glu152=
NM_003280.3:c.456G>A MANE Select NP_003271.1:p.Glu152=
Search 100 bp 5'
Search 100 bp 3'