Canonical Allele Identifier: CA9396157

Gene: WDR62

Linked Data

• ClinVar Variation Id: 516393
• ClinVar RCV Id: RCV000714194
• dbSNP Id: rs141344823
• ExAC: 19:36592920 C / T
• gnomAD v2: 19-36592920-C-T
• gnomAD v3: 19-36102018-C-T
• gnomAD v4: 19-36102018-C-T
• COSMIC: COSM1393042
• MyVariant Identifiers: chr19:g.36592920C>T (hg19) ; chr19:g.36102018C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36102018C>T , CM000681.2:g.36102018C>T	GRCh38
NC_000019.9:g.36592920C>T , CM000681.1:g.36592920C>T	GRCh37
NC_000019.8:g.41284760C>T	NCBI36
NG_028101.1:g.52138C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270301.12:c.3087C>T	ENSP00000270301.6:p.Cys1029=
ENST00000401500.7:c.3087C>T MANE Select	ENSP00000384792.1:p.Cys1029=
ENST00000587391.6:c.*2362C>T	ENSP00000465525.1:n.*2362C>T
ENST00000679357.1:c.877C>T
ENST00000679422.1:c.766C>T
ENST00000679682.1:c.3072C>T	ENSP00000506226.1:p.Cys1024=
ENST00000679714.1:c.3081C>T	ENSP00000506627.1:p.Cys1027=
ENST00000679757.1:c.2736C>T	ENSP00000505158.1:p.Cys912=
ENST00000679858.1:c.*2469C>T	ENSP00000505655.1:n.*2469C>T
ENST00000680211.1:c.-313C>T	ENSP00000506102.1:n.-313C>T
ENST00000680349.1:n.1070C>T
ENST00000680403.1:c.3087C>T	ENSP00000505677.1:p.Cys1029=
ENST00000680564.1:c.2971+701C>T	ENSP00000505582.1:n.2971+701C>T
ENST00000680590.1:c.*1482C>T	ENSP00000505350.1:n.*1482C>T
ENST00000680739.1:c.5C>T
ENST00000680773.1:n.1003C>T
ENST00000680806.1:c.*1805C>T	ENSP00000506418.1:n.*1805C>T
ENST00000680997.1:n.434C>T
ENST00000681088.1:c.749C>T
ENST00000681608.1:n.35C>T
ENST00000681625.1:c.*419C>T	ENSP00000505555.1:n.*419C>T
ENST00000270301.11:c.3087C>T	ENSP00000270301.6:p.Cys1029=
ENST00000401500.6:c.3087C>T	ENSP00000384792.1:p.Cys1029=
ENST00000587391.5:c.*2362C>T	ENSP00000465525.1:n.*2362C>T
NM_001083961.1:c.3087C>T	NP_001077430.1:p.Cys1029=
NM_173636.4:c.3087C>T	NP_775907.4:p.Cys1029=
XM_005258809.2:c.2976C>T	XP_005258866.1:p.Cys992=
XM_011526837.1:c.3072C>T	XP_011525139.1:p.Cys1024=
XM_011526838.1:c.2971+701C>T	XP_011525140.1:n.2971+701C>T
XM_011526839.1:c.2736C>T	XP_011525141.1:p.Cys912=
XM_011526840.1:c.2079C>T	XP_011525142.1:p.Cys693=
XM_011526841.1:c.1665C>T	XP_011525143.1:p.Cys555=
XM_011526842.1:c.1518C>T	XP_011525144.1:p.Cys506=
XM_011526843.1:c.834C>T	XP_011525145.1:p.Cys278=
XM_011526844.1:c.834C>T	XP_011525146.1:p.Cys278=
XM_011526840.2:c.2079C>T	XP_011525142.1:p.Cys693=
XM_011526841.2:c.1665C>T	XP_011525143.1:p.Cys555=
XM_011526844.2:c.834C>T	XP_011525146.1:p.Cys278=
XM_017026665.1:c.3087C>T	XP_016882154.1:p.Cys1029=
NM_001083961.2:c.3087C>T MANE Select	NP_001077430.1:p.Cys1029=
NM_173636.5:c.3087C>T	NP_775907.4:p.Cys1029=