Canonical Allele Identifier: CA363438986
Gene: TNXB HGNC NCBI
COSMIC:
COSM3830181 (not active)
COSM3830182 (not active)
MyVariant.info:
GRCh38 chr6:g.32082290T>G
GRCh37 chr6:g.32050067T>G
Revel Score:
ENST00000375244 0.047
ENST00000375247 0.047
gnomAD v2:
6:32050067 T / G
gnomAD v4:
chr6-32082290-T-G
Joint Max Group AF 0.00004365 (EAS)
Exomes Max Group AF 0.00004928 (EAS)
dbSNP:
185819
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32082290T>G , CM000668.2:g.32082290T>G GRCh38
NC_000006.11:g.32050067T>G , CM000668.1:g.32050067T>G GRCh37
NC_000006.10:g.32158045T>G NCBI36
NG_008337.2:g.32085A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644971.2:c.3482A>C MANE Select ENSP00000496448.1:p.His1161Pro
ENST00000647633.1:c.4223A>C ENSP00000497649.1:p.His1408Pro
ENST00000375244.7:c.3482A>C ENSP00000364393.3:p.His1161Pro
ENST00000613214.4:c.3743A>C ENSP00000480067.1:p.His1248Pro
NM_019105.6:c.3482A>C NP_061978.6:p.His1161Pro
NM_001365276.1:c.3482A>C NP_001352205.1:p.His1161Pro
NM_019105.7:c.3482A>C NP_061978.6:p.His1161Pro
NM_001365276.2:c.3482A>C MANE Select NP_001352205.1:p.His1161Pro
NM_019105.8:c.3482A>C NP_061978.6:p.His1161Pro
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