Canonical Allele Identifier: CA74775259
Gene: TNNC1 HGNC NCBI
ClinVar RCV:
RCV000793080
ClinVar Variation:
640123
dbSNP:
922957538
gnomAD v2:
3:52485464 T / C
gnomAD v3:
3:52451448 T / C
gnomAD v4:
chr3-52451448-T-C
Joint Max Group AF 2.8e-7 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
MyVariant.info:
GRCh38 chr3:g.52451448T>C
GRCh37 chr3:g.52485464T>C
Revel Score:
ENST00000232975 (MANE Select) 0.202
ENST00000496590 0.202
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52451448T>C , CM000665.2:g.52451448T>C GRCh38
NC_000003.11:g.52485464T>C , CM000665.1:g.52485464T>C GRCh37
NC_000003.10:g.52460504T>C NCBI36
NG_008963.1:g.7594A>G , LRG_378:g.7594A>G
NG_033112.1:g.941T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000232975.8:c.397A>G MANE Select ENSP00000232975.3:p.Ile133Val
ENST00000232975.7:c.397A>G ENSP00000232975.3:p.Ile133Val
ENST00000461086.1:n.328A>G
ENST00000496590.1:c.265A>G ENSP00000420596.1:p.Ile89Val
NM_003280.2:c.397A>G , LRG_378t1:c.397A>G NP_003271.1:p.Ile133Val
NM_003280.3:c.397A>G MANE Select NP_003271.1:p.Ile133Val
Search 100 bp 5'
Search 100 bp 3'