Canonical Allele Identifier: CA122395
Gene: TNNC1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.52452222A>T
GRCh37 chr3:g.52486238A>T
Revel Score:
ENST00000232975 (MANE Select) 0.509
gnomAD v2:
3:52486238 A / T
gnomAD v3:
3:52452222 A / T
gnomAD v4:
chr3-52452222-A-T
Joint Max Group AF 0.00001376 (NFE)
Exomes Max Group AF 0.00001377 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52452222A>T , CM000665.2:g.52452222A>T GRCh38
NC_000003.11:g.52486238A>T , CM000665.1:g.52486238A>T GRCh37
NC_000003.10:g.52461278A>T NCBI36
NG_008963.1:g.6820T>A , LRG_378:g.6820T>A
NG_033112.1:g.1715A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000232975.8:c.86T>A MANE Select ENSP00000232975.3:p.Leu29Gln
ENST00000232975.7:c.86T>A ENSP00000232975.3:p.Leu29Gln
ENST00000496590.1:c.-47T>A ENSP00000420596.1:n.-47T>A
NM_003280.2:c.86T>A , LRG_378t1:c.86T>A NP_003271.1:p.Leu29Gln
NM_003280.3:c.86T>A MANE Select NP_003271.1:p.Leu29Gln
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