Canonical Allele Identifier: CA2590210
Gene: ZXDC HGNC NCBI
ClinVar RCV:
RCV004293071
ClinVar Variation:
2521948
dbSNP:
375915731
gnomAD v2:
3:126160705 C / T
gnomAD v3:
3:126441862 C / T
gnomAD v4:
chr3-126441862-C-T
Joint Max Group AF 0.00002746 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00002711 (NFE)
MyVariant.info:
GRCh38 chr3:g.126441862C>T
GRCh37 chr3:g.126160705C>T
Revel Score:
ENST00000389709 (MANE Select) 0.057
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.126441862C>T , CM000665.2:g.126441862C>T GRCh38
NC_000003.11:g.126160705C>T , CM000665.1:g.126160705C>T GRCh37
NC_000003.10:g.127643395C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000389709.8:c.2297G>A MANE Select ENSP00000374359.3:p.Cys766Tyr
ENST00000389709.7:c.2297G>A ENSP00000374359.3:p.Cys766Tyr
ENST00000514463.1:n.1548G>A
ENST00000515545.5:c.1599G>A
NM_025112.4:c.2297G>A NP_079388.3:p.Cys766Tyr
NR_104249.1:n.2531G>A
XM_005247757.2:c.2213-2135G>A XP_005247814.1:n.2213-2135G>A
XM_006713741.1:c.2128-2135G>A XP_006713804.1:n.2128-2135G>A
XM_011513119.1:c.2126G>A XP_011511421.1:p.Cys709Tyr
XR_924169.1:n.2276G>A
XM_005247757.3:c.2213-2135G>A XP_005247814.1:n.2213-2135G>A
XM_006713741.2:c.2128-2135G>A XP_006713804.1:n.2128-2135G>A
XM_011513119.2:c.2126G>A XP_011511421.1:p.Cys709Tyr
XR_924169.2:n.2277G>A
NM_025112.5:c.2297G>A MANE Select NP_079388.3:p.Cys766Tyr
NR_104249.2:n.2503G>A
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