Canonical Allele Identifier: CA3732914
Gene: TNXB HGNC NCBI
COSMIC:
COSM4006390 (not active)
COSM4006391 (not active)
COSM4006392 (not active)
MyVariant.info:
GRCh38 chr6:g.32042955T>G
GRCh37 chr6:g.32010732T>G
Revel Score:
ENST00000375244 0.055
ENST00000451343 0.055
ENST00000375247 0.055
gnomAD v2:
6:32010732 T / G
gnomAD v3:
6:32042955 T / G
gnomAD v4:
chr6-32042955-T-G
Joint Max Group AF 0.49107524 (AMR)
Genomes Max Group AF 0.17264318 (AMR)
Exomes Max Group AF 0.4961689 (AMR)
ClinVar RCV:
RCV000252128
RCV001598642
ClinVar Variation:
261117
dbSNP:
1135809
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32042955T>G , CM000668.2:g.32042955T>G GRCh38
NC_000006.11:g.32010732T>G , CM000668.1:g.32010732T>G GRCh37
NC_000006.10:g.32118711T>G NCBI36
NG_007941.2:g.9648T>G
NG_008337.2:g.71420A>C
NG_007941.3:g.9651T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644971.2:c.11921A>C MANE Select ENSP00000496448.1:p.Asn3974Thr
ENST00000647633.1:c.12662A>C ENSP00000497649.1:p.Asn4221Thr
ENST00000375244.7:c.11921A>C ENSP00000364393.3:p.Asn3974Thr
ENST00000451343.4:c.1208A>C ENSP00000407685.1:p.Asn403Thr
ENST00000490077.5:n.1748A>C
ENST00000498094.1:n.287A>C
ENST00000611016.2:c.5075A>C ENSP00000483409.1:p.Asn1692Thr
NM_019105.6:c.11915A>C NP_061978.6:p.Asn3972Thr
NM_032470.3:c.1208A>C NP_115859.2:p.Asn403Thr
NM_001365276.1:c.11921A>C NP_001352205.1:p.Asn3974Thr
NM_019105.7:c.11915A>C NP_061978.6:p.Asn3972Thr
NM_001365276.2:c.11921A>C MANE Select NP_001352205.1:p.Asn3974Thr
NM_019105.8:c.11915A>C NP_061978.6:p.Asn3972Thr
NM_032470.4:c.1208A>C NP_115859.2:p.Asn403Thr
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