Canonical Allele Identifier: CA8273204

Gene: WDR81

Linked Data

• ClinVar Variation Id: 2500447
• ClinVar RCV Id: RCV003225359
• dbSNP Id: rs547107402
• ExAC: 17:1631464 G / A
• gnomAD v2: 17-1631464-G-A
• gnomAD v3: 17-1728170-G-A
• gnomAD v4: 17-1728170-G-A
• COSMIC: COSM1232678 ; COSM1232679
• MyVariant Identifiers: chr17:g.1631464G>A (hg19) ; chr17:g.1728170G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1728170G>A , CM000679.2:g.1728170G>A	GRCh38
NC_000017.10:g.1631464G>A , CM000679.1:g.1631464G>A	GRCh37
NC_000017.9:g.1578214G>A	NCBI36
NG_032811.1:g.16648G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409644.6:c.3211G>A MANE Select	ENSP00000386609.1:p.Val1071Ile
ENST00000309182.9:c.58G>A	ENSP00000312074.5:p.Val20Ile
ENST00000409644.5:c.3211G>A	ENSP00000386609.1:p.Val1071Ile
ENST00000418841.5:c.-89+3384G>A	ENSP00000395198.1:n.-89+3384G>A
ENST00000419248.5:c.-14-2210G>A	ENSP00000407845.1:n.-14-2210G>A
ENST00000437219.6:c.59-2210G>A	ENSP00000391074.2:n.59-2210G>A
ENST00000446363.5:c.-308-2585G>A	ENSP00000401560.1:n.-308-2585G>A
ENST00000455636.5:c.59-2210G>A	ENSP00000395226.1:n.59-2210G>A
ENST00000464528.5:n.597G>A
ENST00000468539.5:c.63-4155G>A	ENSP00000460742.1:n.63-4155G>A
ENST00000492901.1:n.88-2210G>A
NM_001163673.1:c.59-2210G>A	NP_001157145.1:n.59-2210G>A
NM_001163809.1:c.3211G>A	NP_001157281.1:p.Val1071Ile
NM_001163811.1:c.-14-2210G>A	NP_001157283.1:n.-14-2210G>A
NM_152348.3:c.58G>A	NP_689561.2:p.Val20Ile
XM_005256454.2:c.3211G>A	XP_005256511.1:p.Val1071Ile
XM_011523650.1:c.3211G>A	XP_011521952.1:p.Val1071Ile
XM_011523651.1:c.58G>A	XP_011521953.1:p.Val20Ile
XR_933973.1:n.3355G>A
XM_011523651.2:c.58G>A	XP_011521953.1:p.Val20Ile
XM_017024184.1:c.3211G>A	XP_016879673.1:p.Val1071Ile
XR_001752427.1:n.3363G>A
XR_933973.2:n.3363G>A
NM_001163809.2:c.3211G>A MANE Select	NP_001157281.1:p.Val1071Ile
NM_001163811.2:c.-14-2210G>A	NP_001157283.1:n.-14-2210G>A
NM_152348.4:c.58G>A	NP_689561.2:p.Val20Ile
NM_001163673.2:c.59-2210G>A	NP_001157145.1:n.59-2210G>A