Canonical Allele Identifier: CA10639301

Gene: NEK8

Linked Data

• ClinVar Variation Id: 322500
• ClinVar RCV Id: RCV000407433
• dbSNP Id: rs185303602
• gnomAD v2: 17-27069583-A-C
• gnomAD v3: 17-28742565-A-C
• gnomAD v4: 17-28742565-A-C
• MyVariant Identifiers: chr17:g.27069583A>C (hg19) ; chr17:g.28742565A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.28742565A>C , CM000679.2:g.28742565A>C	GRCh38
NC_000017.10:g.27069583A>C , CM000679.1:g.27069583A>C	GRCh37
NC_000017.9:g.24093710A>C	NCBI36
NG_012263.1:g.18752A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000268766.11:c.*578A>C MANE Select	ENSP00000268766.6:n.*578A>C
ENST00000268766.10:c.*578A>C	ENSP00000268766.6:n.*578A>C
NM_178170.2:c.2657A>C	NP_835464.1:n.2657A>C
XM_011524638.1:c.*578A>C	XP_011522940.1:n.*578A>C
XM_011524639.1:c.*578A>C	XP_011522941.1:n.*578A>C
XM_011524640.1:c.*578A>C	XP_011522942.1:n.*578A>C
XM_011524641.1:c.*578A>C	XP_011522943.1:n.*578A>C
XM_011524642.1:c.*578A>C	XP_011522944.1:n.*578A>C
XM_011524643.1:c.*578A>C	XP_011522945.1:n.*578A>C
XM_011524644.1:c.*578A>C	XP_011522946.1:n.*578A>C
NM_178170.3:c.*578A>C MANE Select	NP_835464.1:n.*578A>C
XM_011524638.3:c.*578A>C	XP_011522940.1:n.*578A>C
XM_011524640.3:c.*578A>C	XP_011522942.1:n.*578A>C
XM_017024499.2:c.*578A>C	XP_016879988.1:n.*578A>C
XM_017024500.2:c.*578A>C	XP_016879989.1:n.*578A>C