Canonical Allele Identifier: CA122401
Gene: TNNC1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.52451410G>T
GRCh37 chr3:g.52485426G>T
Revel Score:
ENST00000232975 (MANE Select) 0.656
gnomAD v2:
3:52485426 G / T
gnomAD v3:
3:52451410 G / T
gnomAD v4:
chr3-52451410-G-T
Joint Max Group AF 0.00007325 (NFE)
Genomes Max Group AF 0.00007908 (NFE)
Exomes Max Group AF 0.00006959 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52451410G>T , CM000665.2:g.52451410G>T GRCh38
NC_000003.11:g.52485426G>T , CM000665.1:g.52485426G>T GRCh37
NC_000003.10:g.52460466G>T NCBI36
NG_008963.1:g.7632C>A , LRG_378:g.7632C>A
NG_033112.1:g.903G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000232975.8:c.435C>A MANE Select ENSP00000232975.3:p.Asp145Glu
ENST00000232975.7:c.435C>A ENSP00000232975.3:p.Asp145Glu
NM_003280.2:c.435C>A , LRG_378t1:c.435C>A NP_003271.1:p.Asp145Glu
NM_003280.3:c.435C>A MANE Select NP_003271.1:p.Asp145Glu
Search 100 bp 5'
Search 100 bp 3'