Canonical Allele Identifier: CA4886628

Gene: NDRG1

Linked Data

• ClinVar Variation Id: 964455
• ClinVar RCV Id: RCV001238680
• dbSNP Id: rs755968590
• ExAC: 8:134261012 C / T
• gnomAD v2: 8-134261012-C-T
• gnomAD v3: 8-133248769-C-T
• gnomAD v4: 8-133248769-C-T
• COSMIC: COSM5685013
• MyVariant Identifiers: chr8:g.134261012C>T (hg19) ; chr8:g.133248769C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.133248769C>T , CM000670.2:g.133248769C>T	GRCh38
NC_000008.10:g.134261012C>T , CM000670.1:g.134261012C>T	GRCh37
NC_000008.9:g.134330194C>T	NCBI36
NG_007943.1:g.53487G>A , LRG_258:g.53487G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000323851.13:c.701G>A MANE Select	ENSP00000319977.8:p.Arg234Gln
ENST00000537882.3:c.701G>A	ENSP00000437443.2:p.Arg234Gln
ENST00000675056.1:n.31G>A
ENST00000675068.1:c.3G>A
ENST00000675172.1:c.297G>A	ENSP00000502297.1:n.297G>A
ENST00000675273.1:n.60G>A
ENST00000675860.1:n.466G>A
ENST00000676444.1:n.732G>A
ENST00000323851.11:c.701G>A	ENSP00000319977.7:p.Arg234Gln
ENST00000414097.6:c.701G>A	ENSP00000404854.2:p.Arg234Gln
ENST00000517331.5:n.419G>A
ENST00000517599.5:c.*307G>A	ENSP00000429172.1:n.*307G>A
ENST00000518066.5:c.37-6713G>A	ENSP00000431057.1:n.37-6713G>A
ENST00000518176.5:c.49-2106G>A	ENSP00000429007.1:n.49-2106G>A
ENST00000519278.5:n.1797G>A
ENST00000521414.5:n.163G>A
ENST00000521664.1:n.451G>A
ENST00000522377.5:c.*181G>A	ENSP00000429380.1:n.*181G>A
ENST00000522476.5:c.503G>A	ENSP00000427894.1:p.Arg168Gln
ENST00000522665.5:n.24G>A
ENST00000537882.2:c.458G>A	ENSP00000437443.1:p.Arg153Gln
NM_001135242.1:c.701G>A	NP_001128714.1:p.Arg234Gln
NM_001258432.1:c.503G>A	NP_001245361.1:p.Arg168Gln
NM_001258433.1:c.458G>A	NP_001245362.1:p.Arg153Gln
NM_006096.3:c.701G>A , LRG_258t1:c.701G>A	NP_006087.2:p.Arg234Gln
XM_011516791.1:c.752G>A	XP_011515093.1:p.Arg251Gln
XM_011516792.1:c.134G>A	XP_011515094.1:p.Arg45Gln
XM_011516792.2:c.134G>A	XP_011515094.1:p.Arg45Gln
NM_001135242.2:c.701G>A	NP_001128714.1:p.Arg234Gln
NM_001258432.2:c.503G>A	NP_001245361.1:p.Arg168Gln
NM_001258433.2:c.458G>A	NP_001245362.1:p.Arg153Gln
NM_001374844.1:c.752G>A	NP_001361773.1:p.Arg251Gln
NM_001374845.1:c.701G>A	NP_001361774.1:p.Arg234Gln
NM_001374846.1:c.701G>A	NP_001361775.1:p.Arg234Gln
NM_001374847.1:c.503G>A	NP_001361776.1:p.Arg168Gln
NM_006096.4:c.701G>A MANE Select	NP_006087.2:p.Arg234Gln