Canonical Allele Identifier: CA243734

Gene: WDR62

Linked Data

• ClinVar Variation Id: 160300
• ClinVar RCV Id: RCV000177523 ; RCV000301172 ; RCV000724024
• dbSNP Id: rs147652186
• ExAC: 19:36595425 C / A
• gnomAD v2: 19-36595425-C-A
• gnomAD v3: 19-36104523-C-A
• gnomAD v4: 19-36104523-C-A
• MyVariant Identifiers: chr19:g.36595425C>A (hg19) ; chr19:g.36104523C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36104523C>A , CM000681.2:g.36104523C>A	GRCh38
NC_000019.9:g.36595425C>A , CM000681.1:g.36595425C>A	GRCh37
NC_000019.8:g.41287265C>A	NCBI36
NG_028101.1:g.54643C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270301.12:c.4144C>A	ENSP00000270301.6:p.Leu1382Ile
ENST00000401500.7:c.4159C>A MANE Select	ENSP00000384792.1:p.Leu1387Ile
ENST00000587391.6:c.*4019C>A	ENSP00000465525.1:n.*4019C>A
ENST00000679357.1:c.2239C>A
ENST00000679598.1:c.919-15C>A
ENST00000679682.1:c.4144C>A	ENSP00000506226.1:p.Leu1382Ile
ENST00000679714.1:c.4153C>A	ENSP00000506627.1:p.Leu1385Ile
ENST00000679757.1:c.3808C>A	ENSP00000505158.1:p.Leu1270Ile
ENST00000679858.1:c.*3541C>A	ENSP00000505655.1:n.*3541C>A
ENST00000680211.1:c.760C>A	ENSP00000506102.1:p.Leu254Ile
ENST00000680280.1:n.1662C>A
ENST00000680349.1:n.2808C>A
ENST00000680403.1:c.4144C>A	ENSP00000505677.1:p.Leu1382Ile
ENST00000680564.1:c.3910C>A	ENSP00000505582.1:p.Leu1304Ile
ENST00000680590.1:c.*2539C>A	ENSP00000505350.1:n.*2539C>A
ENST00000680597.1:c.892C>A
ENST00000680739.1:c.1174C>A
ENST00000680773.1:n.2660C>A
ENST00000680806.1:c.*3462C>A	ENSP00000506418.1:n.*3462C>A
ENST00000680997.1:n.2091C>A
ENST00000681608.1:n.2004C>A
ENST00000681625.1:c.*1491C>A	ENSP00000505555.1:n.*1491C>A
ENST00000681648.1:n.2210C>A
ENST00000270301.11:c.4144C>A	ENSP00000270301.6:p.Leu1382Ile
ENST00000401500.6:c.4159C>A	ENSP00000384792.1:p.Leu1387Ile
ENST00000587391.5:c.*4019C>A	ENSP00000465525.1:n.*4019C>A
NM_001083961.1:c.4159C>A	NP_001077430.1:p.Leu1387Ile
NM_173636.4:c.4144C>A	NP_775907.4:p.Leu1382Ile
XM_005258809.2:c.4048C>A	XP_005258866.1:p.Leu1350Ile
XM_011526837.1:c.4144C>A	XP_011525139.1:p.Leu1382Ile
XM_011526838.1:c.3910C>A	XP_011525140.1:p.Leu1304Ile
XM_011526839.1:c.3808C>A	XP_011525141.1:p.Leu1270Ile
XM_011526840.1:c.3151C>A	XP_011525142.1:p.Leu1051Ile
XM_011526841.1:c.2737C>A	XP_011525143.1:p.Leu913Ile
XM_011526842.1:c.2590C>A	XP_011525144.1:p.Leu864Ile
XM_011526843.1:c.1906C>A	XP_011525145.1:p.Leu636Ile
XM_011526844.1:c.1906C>A	XP_011525146.1:p.Leu636Ile
XM_011526840.2:c.3151C>A	XP_011525142.1:p.Leu1051Ile
XM_011526841.2:c.2737C>A	XP_011525143.1:p.Leu913Ile
XM_011526844.2:c.1906C>A	XP_011525146.1:p.Leu636Ile
XM_017026665.1:c.4159C>A	XP_016882154.1:p.Leu1387Ile
NM_001083961.2:c.4159C>A MANE Select	NP_001077430.1:p.Leu1387Ile
NM_173636.5:c.4144C>A	NP_775907.4:p.Leu1382Ile