Canonical Allele Identifier: CA760314
Gene: NCDN HGNC NCBI
ClinVar RCV:
RCV003406326
ClinVar Variation:
2638650
dbSNP:
1140731
gnomAD v2:
1:36029016 G / A
gnomAD v3:
1:35563415 G / A
gnomAD v4:
chr1-35563415-G-A
Joint Max Group AF 0.00010203 (AMR)
Genomes Max Group AF 0.0000226 (AMR)
Exomes Max Group AF 0.0001043 (AMR)
MyVariant.info:
GRCh38 chr1:g.35563415G>A
GRCh37 chr1:g.36029016G>A
Revel Score:
ENST00000423723 0.218
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.35563415G>A , CM000663.2:g.35563415G>A GRCh38
NC_000001.10:g.36029016G>A , CM000663.1:g.36029016G>A GRCh37
NC_000001.9:g.35801603G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373243.7:c.1599G>A MANE Select ENSP00000362340.2:p.Pro533=
ENST00000356090.8:c.1599G>A ENSP00000348394.4:p.Pro533=
ENST00000373243.6:c.1599G>A ENSP00000362340.2:p.Pro533=
ENST00000373253.7:c.1548G>A ENSP00000362350.3:p.Pro516=
ENST00000423723.1:c.380G>A
NM_001014839.1:c.1599G>A NP_001014839.1:p.Pro533=
NM_001014841.1:c.1548G>A NP_001014841.1:p.Pro516=
NM_014284.2:c.1599G>A NP_055099.1:p.Pro533=
NM_014284.3:c.1599G>A MANE Select NP_055099.1:p.Pro533=
NM_001014839.2:c.1599G>A NP_001014839.1:p.Pro533=
NM_001014841.2:c.1548G>A NP_001014841.1:p.Pro516=
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