Canonical Allele Identifier: CA3733177
Gene: TNXB HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32045260C>T
GRCh37 chr6:g.32013037C>T
Revel Score:
ENST00000375244 0.033
ENST00000375247 0.033
gnomAD v2:
6:32013037 C / T
gnomAD v3:
6:32045260 C / T
gnomAD v4:
chr6-32045260-C-T
Joint Max Group AF 0.02927935 (NFE)
Genomes Max Group AF 0.02711346 (NFE)
Exomes Max Group AF 0.02935297 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32045260C>T , CM000668.2:g.32045260C>T GRCh38
NC_000006.11:g.32013037C>T , CM000668.1:g.32013037C>T GRCh37
NC_000006.10:g.32121015C>T NCBI36
NG_008337.2:g.69115G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644971.2:c.10673G>A MANE Select ENSP00000496448.1:p.Arg3558His
ENST00000647633.1:c.11414G>A ENSP00000497649.1:p.Arg3805His
ENST00000375244.7:c.10673G>A ENSP00000364393.3:p.Arg3558His
ENST00000451343.4:c.-41G>A ENSP00000407685.1:n.-41G>A
ENST00000490077.5:n.500G>A
ENST00000611016.2:c.3827G>A ENSP00000483409.1:p.Arg1276His
NM_019105.6:c.10667G>A NP_061978.6:p.Arg3556His
NM_032470.3:c.-41G>A NP_115859.2:n.-41G>A
NM_001365276.1:c.10673G>A NP_001352205.1:p.Arg3558His
NM_019105.7:c.10667G>A NP_061978.6:p.Arg3556His
NM_001365276.2:c.10673G>A MANE Select NP_001352205.1:p.Arg3558His
NM_019105.8:c.10667G>A NP_061978.6:p.Arg3556His
NM_032470.4:c.-41G>A NP_115859.2:n.-41G>A
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