Canonical Allele Identifier: CA297331
Gene: TNNC1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.52451399T>C
GRCh37 chr3:g.52485415T>C
Revel Score:
ENST00000232975 (MANE Select) 0.808
ClinVar RCV:
RCV000159201
ClinVar Variation:
181568
dbSNP:
730881062
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52451399T>C , CM000665.2:g.52451399T>C GRCh38
NC_000003.11:g.52485415T>C , CM000665.1:g.52485415T>C GRCh37
NC_000003.10:g.52460455T>C NCBI36
NG_008963.1:g.7643A>G , LRG_378:g.7643A>G
NG_033112.1:g.892T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000232975.8:c.446A>G MANE Select ENSP00000232975.3:p.Asp149Gly
ENST00000232975.7:c.446A>G ENSP00000232975.3:p.Asp149Gly
NM_003280.2:c.446A>G , LRG_378t1:c.446A>G NP_003271.1:p.Asp149Gly
NM_003280.3:c.446A>G MANE Select NP_003271.1:p.Asp149Gly
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