Canonical Allele Identifier: CA8467584

Gene: NEK8

Linked Data

• ClinVar Variation Id: 322485
• ClinVar RCV Id: RCV000319909 ; RCV001660663 ; RCV003940269
• dbSNP Id: rs201548032
• ExAC: 17:27068436 G / A
• gnomAD v2: 17-27068436-G-A
• gnomAD v3: 17-28741418-G-A
• gnomAD v4: 17-28741418-G-A
• MyVariant Identifiers: chr17:g.27068436G>A (hg19) ; chr17:g.28741418G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28741418G>A , CM000679.2:g.28741418G>A	GRCh38
NC_000017.10:g.27068436G>A , CM000679.1:g.27068436G>A	GRCh37
NC_000017.9:g.24092563G>A	NCBI36
NG_012263.1:g.17605G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268766.11:c.1897G>A MANE Select	ENSP00000268766.6:p.Glu633Lys
ENST00000268766.10:c.1897G>A	ENSP00000268766.6:p.Glu633Lys
ENST00000543014.1:c.*119-81G>A	ENSP00000465859.1:n.*119-81G>A
NM_178170.2:c.1897G>A	NP_835464.1:p.Glu633Lys
XM_011524638.1:c.2008G>A	XP_011522940.1:p.Glu670Lys
XM_011524639.1:c.1981G>A	XP_011522941.1:p.Glu661Lys
XM_011524640.1:c.1969G>A	XP_011522942.1:p.Glu657Lys
XM_011524641.1:c.1864G>A	XP_011522943.1:p.Glu622Lys
XM_011524642.1:c.1864G>A	XP_011522944.1:p.Glu622Lys
XM_011524643.1:c.1864G>A	XP_011522945.1:p.Glu622Lys
XM_011524644.1:c.1687G>A	XP_011522946.1:p.Glu563Lys
NM_178170.3:c.1897G>A MANE Select	NP_835464.1:p.Glu633Lys
XM_011524638.3:c.2008G>A	XP_011522940.1:p.Glu670Lys
XM_011524640.3:c.1969G>A	XP_011522942.1:p.Glu657Lys
XM_017024499.2:c.1936G>A	XP_016879988.1:p.Glu646Lys
XM_017024500.2:c.1819G>A	XP_016879989.1:p.Glu607Lys
XR_001752497.2:n.2136G>A