Canonical Allele Identifier: CA507318424

Gene: WDR62

Linked Data

• ClinVar Variation Id: 1336377
• ClinVar RCV Id: RCV001817332
• dbSNP Id: rs1470780343
• gnomAD v3: 19-36104522-A-C
• gnomAD v4: 19-36104522-A-C
• MyVariant Identifiers: chr19:g.36595424A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36104522A>C , CM000681.2:g.36104522A>C	GRCh38
NC_000019.9:g.36595424A>C , CM000681.1:g.36595424A>C	GRCh37
NC_000019.8:g.41287264A>C	NCBI36
NG_028101.1:g.54642A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270301.12:c.4143A>C	ENSP00000270301.6:p.Ala1381=
ENST00000401500.7:c.4158A>C MANE Select	ENSP00000384792.1:p.Ala1386=
ENST00000587391.6:c.*4018A>C	ENSP00000465525.1:n.*4018A>C
ENST00000679357.1:c.2238A>C
ENST00000679598.1:c.919-16A>C
ENST00000679682.1:c.4143A>C	ENSP00000506226.1:p.Ala1381=
ENST00000679714.1:c.4152A>C	ENSP00000506627.1:p.Ala1384=
ENST00000679757.1:c.3807A>C	ENSP00000505158.1:p.Ala1269=
ENST00000679858.1:c.*3540A>C	ENSP00000505655.1:n.*3540A>C
ENST00000680211.1:c.759A>C	ENSP00000506102.1:p.Ala253=
ENST00000680280.1:n.1661A>C
ENST00000680349.1:n.2807A>C
ENST00000680403.1:c.4143A>C	ENSP00000505677.1:p.Ala1381=
ENST00000680564.1:c.3909A>C	ENSP00000505582.1:p.Ala1303=
ENST00000680590.1:c.*2538A>C	ENSP00000505350.1:n.*2538A>C
ENST00000680597.1:c.891A>C
ENST00000680739.1:c.1173A>C
ENST00000680773.1:n.2659A>C
ENST00000680806.1:c.*3461A>C	ENSP00000506418.1:n.*3461A>C
ENST00000680997.1:n.2090A>C
ENST00000681608.1:n.2003A>C
ENST00000681625.1:c.*1490A>C	ENSP00000505555.1:n.*1490A>C
ENST00000681648.1:n.2209A>C
ENST00000270301.11:c.4143A>C	ENSP00000270301.6:p.Ala1381=
ENST00000401500.6:c.4158A>C	ENSP00000384792.1:p.Ala1386=
ENST00000587391.5:c.*4018A>C	ENSP00000465525.1:n.*4018A>C
NM_001083961.1:c.4158A>C	NP_001077430.1:p.Ala1386=
NM_173636.4:c.4143A>C	NP_775907.4:p.Ala1381=
XM_005258809.2:c.4047A>C	XP_005258866.1:p.Ala1349=
XM_011526837.1:c.4143A>C	XP_011525139.1:p.Ala1381=
XM_011526838.1:c.3909A>C	XP_011525140.1:p.Ala1303=
XM_011526839.1:c.3807A>C	XP_011525141.1:p.Ala1269=
XM_011526840.1:c.3150A>C	XP_011525142.1:p.Ala1050=
XM_011526841.1:c.2736A>C	XP_011525143.1:p.Ala912=
XM_011526842.1:c.2589A>C	XP_011525144.1:p.Ala863=
XM_011526843.1:c.1905A>C	XP_011525145.1:p.Ala635=
XM_011526844.1:c.1905A>C	XP_011525146.1:p.Ala635=
XM_011526840.2:c.3150A>C	XP_011525142.1:p.Ala1050=
XM_011526841.2:c.2736A>C	XP_011525143.1:p.Ala912=
XM_011526844.2:c.1905A>C	XP_011525146.1:p.Ala635=
XM_017026665.1:c.4158A>C	XP_016882154.1:p.Ala1386=
NM_001083961.2:c.4158A>C MANE Select	NP_001077430.1:p.Ala1386=
NM_173636.5:c.4143A>C	NP_775907.4:p.Ala1381=