Canonical Allele Identifier: CA353170797
Gene: TNNC1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.52453993G>C
GRCh37 chr3:g.52488009G>C
Revel Score:
ENST00000232975 (MANE Select) 0.574
ClinVar RCV:
RCV002014274
ClinVar Variation:
1510985
dbSNP:
267607125
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52453993G>C , CM000665.2:g.52453993G>C GRCh38
NC_000003.11:g.52488009G>C , CM000665.1:g.52488009G>C GRCh37
NC_000003.10:g.52463049G>C NCBI36
NG_008963.1:g.5049C>G , LRG_378:g.5049C>G
NG_033112.1:g.3486G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000232975.8:c.23C>G MANE Select ENSP00000232975.3:p.Ala8Gly
ENST00000232975.7:c.23C>G ENSP00000232975.3:p.Ala8Gly
NM_003280.2:c.23C>G , LRG_378t1:c.23C>G NP_003271.1:p.Ala8Gly
NM_003280.3:c.23C>G MANE Select NP_003271.1:p.Ala8Gly
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