Canonical Allele Identifier: CA339349113

Gene: NCDN

Linked Data

• ClinVar Variation Id: 984915
• ClinVar RCV Id: RCV001391341 ; RCV001526831
• dbSNP Id: rs762580458
• MyVariant Identifiers: chr1:g.36031029C>T (hg19) ; chr1:g.35565428C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.35565428C>T , CM000663.2:g.35565428C>T	GRCh38
NC_000001.10:g.36031029C>T , CM000663.1:g.36031029C>T	GRCh37
NC_000001.9:g.35803616C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373243.7:c.1955C>T MANE Select	ENSP00000362340.2:p.Pro652Leu
ENST00000356090.8:c.1955C>T	ENSP00000348394.4:p.Pro652Leu
ENST00000373243.6:c.1955C>T	ENSP00000362340.2:p.Pro652Leu
ENST00000373253.7:c.1904C>T	ENSP00000362350.3:p.Pro635Leu
ENST00000423723.1:c.535-1395C>T
NM_001014839.1:c.1955C>T	NP_001014839.1:p.Pro652Leu
NM_001014841.1:c.1904C>T	NP_001014841.1:p.Pro635Leu
NM_014284.2:c.1955C>T	NP_055099.1:p.Pro652Leu
NM_014284.3:c.1955C>T MANE Select	NP_055099.1:p.Pro652Leu
NM_001014839.2:c.1955C>T	NP_001014839.1:p.Pro652Leu
NM_001014841.2:c.1904C>T	NP_001014841.1:p.Pro635Leu