Canonical Allele Identifier: CA339346431

Gene: NCDN

Linked Data

• ClinVar Variation Id: 984914
• ClinVar RCV Id: RCV001391340 ; RCV001526830
• dbSNP Id: rs2148539394
• MyVariant Identifiers: chr1:g.36028909T>C (hg19) ; chr1:g.35563308T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.35563308T>C , CM000663.2:g.35563308T>C	GRCh38
NC_000001.10:g.36028909T>C , CM000663.1:g.36028909T>C	GRCh37
NC_000001.9:g.35801496T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373243.7:c.1492T>C MANE Select	ENSP00000362340.2:p.Trp498Arg
ENST00000356090.8:c.1492T>C	ENSP00000348394.4:p.Trp498Arg
ENST00000373243.6:c.1492T>C	ENSP00000362340.2:p.Trp498Arg
ENST00000373253.7:c.1441T>C	ENSP00000362350.3:p.Trp481Arg
ENST00000423723.1:c.273T>C
NM_001014839.1:c.1492T>C	NP_001014839.1:p.Trp498Arg
NM_001014841.1:c.1441T>C	NP_001014841.1:p.Trp481Arg
NM_014284.2:c.1492T>C	NP_055099.1:p.Trp498Arg
NM_014284.3:c.1492T>C MANE Select	NP_055099.1:p.Trp498Arg
NM_001014839.2:c.1492T>C	NP_001014839.1:p.Trp498Arg
NM_001014841.2:c.1441T>C	NP_001014841.1:p.Trp481Arg