Canonical Allele Identifier: CA134857
Gene: TNNC1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.52451403T>C
GRCh37 chr3:g.52485419T>C
Revel Score:
ENST00000232975 (MANE Select) 0.340
gnomAD v2:
3:52485419 T / C
gnomAD v3:
3:52451403 T / C
gnomAD v4:
chr3-52451403-T-C
Joint Max Group AF 0.00000688 (NFE)
Exomes Max Group AF 0.00000652 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52451403T>C , CM000665.2:g.52451403T>C GRCh38
NC_000003.11:g.52485419T>C , CM000665.1:g.52485419T>C GRCh37
NC_000003.10:g.52460459T>C NCBI36
NG_008963.1:g.7639A>G , LRG_378:g.7639A>G
NG_033112.1:g.896T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000232975.8:c.442A>G MANE Select ENSP00000232975.3:p.Ile148Val
ENST00000232975.7:c.442A>G ENSP00000232975.3:p.Ile148Val
NM_003280.2:c.442A>G , LRG_378t1:c.442A>G NP_003271.1:p.Ile148Val
NM_003280.3:c.442A>G MANE Select NP_003271.1:p.Ile148Val
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