Canonical Allele Identifier: CA207773

Gene: WDR62

Linked Data

• ClinVar Variation Id: 212607
• ClinVar RCV Id: RCV000193946 ; RCV001128275 ; RCV001252634 ; RCV001795314
• dbSNP Id: rs372272053
• ExAC: 19:36595453 G / A
• gnomAD v2: 19-36595453-G-A
• gnomAD v3: 19-36104551-G-A
• gnomAD v4: 19-36104551-G-A
• MyVariant Identifiers: chr19:g.36595453G>A (hg19) ; chr19:g.36104551G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36104551G>A , CM000681.2:g.36104551G>A	GRCh38
NC_000019.9:g.36595453G>A , CM000681.1:g.36595453G>A	GRCh37
NC_000019.8:g.41287293G>A	NCBI36
NG_028101.1:g.54671G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270301.12:c.4172G>A	ENSP00000270301.6:p.Arg1391His
ENST00000401500.7:c.4187G>A MANE Select	ENSP00000384792.1:p.Arg1396His
ENST00000587391.6:c.*4047G>A	ENSP00000465525.1:n.*4047G>A
ENST00000679357.1:c.2267G>A
ENST00000679598.1:c.932G>A
ENST00000679682.1:c.4172G>A	ENSP00000506226.1:p.Arg1391His
ENST00000679714.1:c.4181G>A	ENSP00000506627.1:p.Arg1394His
ENST00000679757.1:c.3836G>A	ENSP00000505158.1:p.Arg1279His
ENST00000679858.1:c.*3569G>A	ENSP00000505655.1:n.*3569G>A
ENST00000680211.1:c.788G>A	ENSP00000506102.1:p.Arg263His
ENST00000680280.1:n.1690G>A
ENST00000680349.1:n.2836G>A
ENST00000680403.1:c.4172G>A	ENSP00000505677.1:p.Arg1391His
ENST00000680564.1:c.3938G>A	ENSP00000505582.1:p.Arg1313His
ENST00000680590.1:c.*2567G>A	ENSP00000505350.1:n.*2567G>A
ENST00000680597.1:c.920G>A
ENST00000680739.1:c.1202G>A
ENST00000680773.1:n.2688G>A
ENST00000680806.1:c.*3490G>A	ENSP00000506418.1:n.*3490G>A
ENST00000680997.1:n.2119G>A
ENST00000681608.1:n.2032G>A
ENST00000681625.1:c.*1519G>A	ENSP00000505555.1:n.*1519G>A
ENST00000681648.1:n.2238G>A
ENST00000270301.11:c.4172G>A	ENSP00000270301.6:p.Arg1391His
ENST00000401500.6:c.4187G>A	ENSP00000384792.1:p.Arg1396His
ENST00000587391.5:c.*4047G>A	ENSP00000465525.1:n.*4047G>A
NM_001083961.1:c.4187G>A	NP_001077430.1:p.Arg1396His
NM_173636.4:c.4172G>A	NP_775907.4:p.Arg1391His
XM_005258809.2:c.4076G>A	XP_005258866.1:p.Arg1359His
XM_011526837.1:c.4172G>A	XP_011525139.1:p.Arg1391His
XM_011526838.1:c.3938G>A	XP_011525140.1:p.Arg1313His
XM_011526839.1:c.3836G>A	XP_011525141.1:p.Arg1279His
XM_011526840.1:c.3179G>A	XP_011525142.1:p.Arg1060His
XM_011526841.1:c.2765G>A	XP_011525143.1:p.Arg922His
XM_011526842.1:c.2618G>A	XP_011525144.1:p.Arg873His
XM_011526843.1:c.1934G>A	XP_011525145.1:p.Arg645His
XM_011526844.1:c.1934G>A	XP_011525146.1:p.Arg645His
XM_011526840.2:c.3179G>A	XP_011525142.1:p.Arg1060His
XM_011526841.2:c.2765G>A	XP_011525143.1:p.Arg922His
XM_011526844.2:c.1934G>A	XP_011525146.1:p.Arg645His
XM_017026665.1:c.4187G>A	XP_016882154.1:p.Arg1396His
NM_001083961.2:c.4187G>A MANE Select	NP_001077430.1:p.Arg1396His
NM_173636.5:c.4172G>A	NP_775907.4:p.Arg1391His