Canonical Allele Identifier: CA297328
Gene: TNNC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 181567
ClinVar RCV Id: RCV001808432 RCV002326908 RCV003236784 RCV003952794
dbSNP Id: rs730881061
gnomAD v3: 3-52451415-T-C
gnomAD v4: 3-52451415-T-C
MyVariant Identifiers: chr3:g.52485431T>C (hg19) chr3:g.52451415T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52451415T>C , CM000665.2:g.52451415T>C GRCh38
NC_000003.11:g.52485431T>C , CM000665.1:g.52485431T>C GRCh37
NC_000003.10:g.52460471T>C NCBI36
NG_008963.1:g.7627A>G , LRG_378:g.7627A>G
NG_033112.1:g.908T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000232975.8:c.430A>G MANE Select ENSP00000232975.3:p.Asn144Asp
ENST00000232975.7:c.430A>G ENSP00000232975.3:p.Asn144Asp
ENST00000496590.1:c.298A>G
NM_003280.2:c.430A>G , LRG_378t1:c.430A>G NP_003271.1:p.Asn144Asp
NM_003280.3:c.430A>G MANE Select NP_003271.1:p.Asn144Asp
Search 100 bp 5'
Search 100 bp 3'