Canonical Allele Identifier: CA9396499

Gene: WDR62

Linked Data

• ClinVar Variation Id: 424577
• ClinVar RCV Id: RCV000483776
• dbSNP Id: rs778841660
• ExAC: 19:36595452 C / T
• gnomAD v2: 19-36595452-C-T
• gnomAD v3: 19-36104550-C-T
• gnomAD v4: 19-36104550-C-T
• COSMIC: COSM3199502
• MyVariant Identifiers: chr19:g.36595452C>T (hg19) ; chr19:g.36104550C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36104550C>T , CM000681.2:g.36104550C>T	GRCh38
NC_000019.9:g.36595452C>T , CM000681.1:g.36595452C>T	GRCh37
NC_000019.8:g.41287292C>T	NCBI36
NG_028101.1:g.54670C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270301.12:c.4171C>T	ENSP00000270301.6:p.Arg1391Cys
ENST00000401500.7:c.4186C>T MANE Select	ENSP00000384792.1:p.Arg1396Cys
ENST00000587391.6:c.*4046C>T	ENSP00000465525.1:n.*4046C>T
ENST00000679357.1:c.2266C>T
ENST00000679598.1:c.931C>T
ENST00000679682.1:c.4171C>T	ENSP00000506226.1:p.Arg1391Cys
ENST00000679714.1:c.4180C>T	ENSP00000506627.1:p.Arg1394Cys
ENST00000679757.1:c.3835C>T	ENSP00000505158.1:p.Arg1279Cys
ENST00000679858.1:c.*3568C>T	ENSP00000505655.1:n.*3568C>T
ENST00000680211.1:c.787C>T	ENSP00000506102.1:p.Arg263Cys
ENST00000680280.1:n.1689C>T
ENST00000680349.1:n.2835C>T
ENST00000680403.1:c.4171C>T	ENSP00000505677.1:p.Arg1391Cys
ENST00000680564.1:c.3937C>T	ENSP00000505582.1:p.Arg1313Cys
ENST00000680590.1:c.*2566C>T	ENSP00000505350.1:n.*2566C>T
ENST00000680597.1:c.919C>T
ENST00000680739.1:c.1201C>T
ENST00000680773.1:n.2687C>T
ENST00000680806.1:c.*3489C>T	ENSP00000506418.1:n.*3489C>T
ENST00000680997.1:n.2118C>T
ENST00000681608.1:n.2031C>T
ENST00000681625.1:c.*1518C>T	ENSP00000505555.1:n.*1518C>T
ENST00000681648.1:n.2237C>T
ENST00000270301.11:c.4171C>T	ENSP00000270301.6:p.Arg1391Cys
ENST00000401500.6:c.4186C>T	ENSP00000384792.1:p.Arg1396Cys
ENST00000587391.5:c.*4046C>T	ENSP00000465525.1:n.*4046C>T
NM_001083961.1:c.4186C>T	NP_001077430.1:p.Arg1396Cys
NM_173636.4:c.4171C>T	NP_775907.4:p.Arg1391Cys
XM_005258809.2:c.4075C>T	XP_005258866.1:p.Arg1359Cys
XM_011526837.1:c.4171C>T	XP_011525139.1:p.Arg1391Cys
XM_011526838.1:c.3937C>T	XP_011525140.1:p.Arg1313Cys
XM_011526839.1:c.3835C>T	XP_011525141.1:p.Arg1279Cys
XM_011526840.1:c.3178C>T	XP_011525142.1:p.Arg1060Cys
XM_011526841.1:c.2764C>T	XP_011525143.1:p.Arg922Cys
XM_011526842.1:c.2617C>T	XP_011525144.1:p.Arg873Cys
XM_011526843.1:c.1933C>T	XP_011525145.1:p.Arg645Cys
XM_011526844.1:c.1933C>T	XP_011525146.1:p.Arg645Cys
XM_011526840.2:c.3178C>T	XP_011525142.1:p.Arg1060Cys
XM_011526841.2:c.2764C>T	XP_011525143.1:p.Arg922Cys
XM_011526844.2:c.1933C>T	XP_011525146.1:p.Arg645Cys
XM_017026665.1:c.4186C>T	XP_016882154.1:p.Arg1396Cys
NM_001083961.2:c.4186C>T MANE Select	NP_001077430.1:p.Arg1396Cys
NM_173636.5:c.4171C>T	NP_775907.4:p.Arg1391Cys