Canonical Allele Identifier: CA339346389

Gene: NCDN

Linked Data

• ClinVar Variation Id: 2434074
• ClinVar RCV Id: RCV003132856
• MyVariant Identifiers: chr1:g.36028899C>G (hg19) ; chr1:g.35563298C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.35563298C>G , CM000663.2:g.35563298C>G	GRCh38
NC_000001.10:g.36028899C>G , CM000663.1:g.36028899C>G	GRCh37
NC_000001.9:g.35801486C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373243.7:c.1482C>G MANE Select	ENSP00000362340.2:p.Phe494Leu
ENST00000356090.8:c.1482C>G	ENSP00000348394.4:p.Phe494Leu
ENST00000373243.6:c.1482C>G	ENSP00000362340.2:p.Phe494Leu
ENST00000373253.7:c.1431C>G	ENSP00000362350.3:p.Phe477Leu
ENST00000423723.1:c.263C>G
NM_001014839.1:c.1482C>G	NP_001014839.1:p.Phe494Leu
NM_001014841.1:c.1431C>G	NP_001014841.1:p.Phe477Leu
NM_014284.2:c.1482C>G	NP_055099.1:p.Phe494Leu
NM_014284.3:c.1482C>G MANE Select	NP_055099.1:p.Phe494Leu
NM_001014839.2:c.1482C>G	NP_001014839.1:p.Phe494Leu
NM_001014841.2:c.1431C>G	NP_001014841.1:p.Phe477Leu