Canonical Allele Identifier: CA339345943

Gene: NCDN

Linked Data

• ClinVar Variation Id: 984912
• ClinVar RCV Id: RCV001391338 ; RCV001526833
• dbSNP Id: rs376408289
• MyVariant Identifiers: chr1:g.36028146G>C (hg19) ; chr1:g.35562545G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.35562545G>C , CM000663.2:g.35562545G>C	GRCh38
NC_000001.10:g.36028146G>C , CM000663.1:g.36028146G>C	GRCh37
NC_000001.9:g.35800733G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373243.7:c.1297G>C MANE Select	ENSP00000362340.2:p.Glu433Gln
ENST00000356090.8:c.1297G>C	ENSP00000348394.4:p.Glu433Gln
ENST00000373243.6:c.1297G>C	ENSP00000362340.2:p.Glu433Gln
ENST00000373253.7:c.1246G>C	ENSP00000362350.3:p.Glu416Gln
ENST00000423723.1:c.78G>C
NM_001014839.1:c.1297G>C	NP_001014839.1:p.Glu433Gln
NM_001014841.1:c.1246G>C	NP_001014841.1:p.Glu416Gln
NM_014284.2:c.1297G>C	NP_055099.1:p.Glu433Gln
NM_014284.3:c.1297G>C MANE Select	NP_055099.1:p.Glu433Gln
NM_001014839.2:c.1297G>C	NP_001014839.1:p.Glu433Gln
NM_001014841.2:c.1246G>C	NP_001014841.1:p.Glu416Gln