Canonical Allele Identifier: CA410392608

Gene: WDR4

Linked Data

• ClinVar Variation Id: 438741
• ClinVar RCV Id: RCV000758712
• dbSNP Id: rs1555976610
• MyVariant Identifiers: chr21:g.44282467T>G (hg19) ; chr21:g.42862357T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42862357T>G , CM000683.2:g.42862357T>G	GRCh38
NC_000021.8:g.44282467T>G , CM000683.1:g.44282467T>G	GRCh37
NC_000021.7:g.43155536T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398208.3:c.491A>C MANE Select	ENSP00000381266.2:p.Asp164Ala
ENST00000330317.6:c.491A>C	ENSP00000328671.2:p.Asp164Ala
ENST00000398208.2:c.491A>C	ENSP00000381266.2:p.Asp164Ala
ENST00000463902.5:n.376A>C
ENST00000470658.1:n.826A>C
ENST00000476326.5:n.406A>C
ENST00000479429.5:n.459A>C
ENST00000492742.5:n.634A>C
NM_001260474.1:c.491A>C	NP_001247403.1:p.Asp164Ala
NM_001260475.1:c.53A>C	NP_001247404.1:p.Asp18Ala
NM_001260476.1:c.53A>C	NP_001247405.1:p.Asp18Ala
NM_001260477.1:c.53A>C	NP_001247406.1:p.Asp18Ala
NM_018669.5:c.491A>C	NP_061139.2:p.Asp164Ala
NM_033661.4:c.491A>C	NP_387510.1:p.Asp164Ala
NR_048535.1:n.471A>C
XM_011529433.1:c.479A>C	XP_011527735.1:p.Asp160Ala
XR_937429.1:n.565A>C
XR_937430.1:n.565A>C
XR_937431.1:n.565A>C
XM_017028262.1:c.462-2635A>C	XP_016883751.1:n.462-2635A>C
XM_017028263.1:c.297-2635A>C	XP_016883752.1:n.297-2635A>C
XM_017028264.1:c.297-2635A>C	XP_016883753.1:n.297-2635A>C
XM_024452047.1:c.53A>C	XP_024307815.1:p.Asp18Ala
XM_024452048.1:c.53A>C	XP_024307816.1:p.Asp18Ala
XM_024452049.1:c.53A>C	XP_024307817.1:p.Asp18Ala
XM_024452050.1:c.53A>C	XP_024307818.1:p.Asp18Ala
NM_018669.6:c.491A>C MANE Select	NP_061139.2:p.Asp164Ala
NM_001260474.2:c.491A>C	NP_001247403.1:p.Asp164Ala
NM_001260475.2:c.53A>C	NP_001247404.1:p.Asp18Ala
NM_001260476.2:c.53A>C	NP_001247405.1:p.Asp18Ala
NM_001260477.2:c.53A>C	NP_001247406.1:p.Asp18Ala
NM_033661.5:c.491A>C	NP_387510.1:p.Asp164Ala