Canonical Allele Identifier: CA9396508

Gene: WDR62

Linked Data

• ClinVar Variation Id: 2077841
• ClinVar RCV Id: RCV002985730
• dbSNP Id: rs368357599
• ExAC: 19:36595492 C / T
• gnomAD v2: 19-36595492-C-T
• gnomAD v3: 19-36104590-C-T
• gnomAD v4: 19-36104590-C-T
• MyVariant Identifiers: chr19:g.36595492C>T (hg19) ; chr19:g.36104590C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36104590C>T , CM000681.2:g.36104590C>T	GRCh38
NC_000019.9:g.36595492C>T , CM000681.1:g.36595492C>T	GRCh37
NC_000019.8:g.41287332C>T	NCBI36
NG_028101.1:g.54710C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270301.12:c.4211C>T	ENSP00000270301.6:p.Pro1404Leu
ENST00000401500.7:c.4226C>T MANE Select	ENSP00000384792.1:p.Pro1409Leu
ENST00000587391.6:c.*4086C>T	ENSP00000465525.1:n.*4086C>T
ENST00000679357.1:c.2306C>T
ENST00000679598.1:c.971C>T
ENST00000679682.1:c.4211C>T	ENSP00000506226.1:p.Pro1404Leu
ENST00000679714.1:c.4220C>T	ENSP00000506627.1:p.Pro1407Leu
ENST00000679757.1:c.3875C>T	ENSP00000505158.1:p.Pro1292Leu
ENST00000679858.1:c.*3608C>T	ENSP00000505655.1:n.*3608C>T
ENST00000680211.1:c.827C>T	ENSP00000506102.1:p.Pro276Leu
ENST00000680280.1:n.1729C>T
ENST00000680349.1:n.2875C>T
ENST00000680403.1:c.4211C>T	ENSP00000505677.1:p.Pro1404Leu
ENST00000680564.1:c.3977C>T	ENSP00000505582.1:p.Pro1326Leu
ENST00000680590.1:c.*2606C>T	ENSP00000505350.1:n.*2606C>T
ENST00000680597.1:c.959C>T
ENST00000680739.1:c.1241C>T
ENST00000680773.1:n.2727C>T
ENST00000680806.1:c.*3529C>T	ENSP00000506418.1:n.*3529C>T
ENST00000680997.1:n.2158C>T
ENST00000681608.1:n.2071C>T
ENST00000681625.1:c.*1558C>T	ENSP00000505555.1:n.*1558C>T
ENST00000681648.1:n.2277C>T
ENST00000270301.11:c.4211C>T	ENSP00000270301.6:p.Pro1404Leu
ENST00000401500.6:c.4226C>T	ENSP00000384792.1:p.Pro1409Leu
ENST00000587391.5:c.*4086C>T	ENSP00000465525.1:n.*4086C>T
NM_001083961.1:c.4226C>T	NP_001077430.1:p.Pro1409Leu
NM_173636.4:c.4211C>T	NP_775907.4:p.Pro1404Leu
XM_005258809.2:c.4115C>T	XP_005258866.1:p.Pro1372Leu
XM_011526837.1:c.4211C>T	XP_011525139.1:p.Pro1404Leu
XM_011526838.1:c.3977C>T	XP_011525140.1:p.Pro1326Leu
XM_011526839.1:c.3875C>T	XP_011525141.1:p.Pro1292Leu
XM_011526840.1:c.3218C>T	XP_011525142.1:p.Pro1073Leu
XM_011526841.1:c.2804C>T	XP_011525143.1:p.Pro935Leu
XM_011526842.1:c.2657C>T	XP_011525144.1:p.Pro886Leu
XM_011526843.1:c.1973C>T	XP_011525145.1:p.Pro658Leu
XM_011526844.1:c.1973C>T	XP_011525146.1:p.Pro658Leu
XM_011526840.2:c.3218C>T	XP_011525142.1:p.Pro1073Leu
XM_011526841.2:c.2804C>T	XP_011525143.1:p.Pro935Leu
XM_011526844.2:c.1973C>T	XP_011525146.1:p.Pro658Leu
XM_017026665.1:c.4226C>T	XP_016882154.1:p.Pro1409Leu
NM_001083961.2:c.4226C>T MANE Select	NP_001077430.1:p.Pro1409Leu
NM_173636.5:c.4211C>T	NP_775907.4:p.Pro1404Leu