Canonical Allele Identifier: CA760174
Gene: NCDN HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.35561011G>A , CM000663.2:g.35561011G>A GRCh38
NC_000001.10:g.36026612G>A , CM000663.1:g.36026612G>A GRCh37
NC_000001.9:g.35799199G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373243.7:c.860G>A MANE Select ENSP00000362340.2:p.Arg287His
ENST00000356090.8:c.860G>A ENSP00000348394.4:p.Arg287His
ENST00000373243.6:c.860G>A ENSP00000362340.2:p.Arg287His
ENST00000373253.7:c.809G>A ENSP00000362350.3:p.Arg270His
NM_001014839.1:c.860G>A NP_001014839.1:p.Arg287His
NM_001014841.1:c.809G>A NP_001014841.1:p.Arg270His
NM_014284.2:c.860G>A NP_055099.1:p.Arg287His
NM_014284.3:c.860G>A MANE Select NP_055099.1:p.Arg287His
NM_001014839.2:c.860G>A NP_001014839.1:p.Arg287His
NM_001014841.2:c.809G>A NP_001014841.1:p.Arg270His