Canonical Allele Identifier: CA9396502

Gene: WDR62

Linked Data

• ClinVar Variation Id: 1498188
• ClinVar RCV Id: RCV002019598
• dbSNP Id: rs746633430
• ExAC: 19:36595474 C / T
• gnomAD v2: 19-36595474-C-T
• gnomAD v3: 19-36104572-C-T
• gnomAD v4: 19-36104572-C-T
• MyVariant Identifiers: chr19:g.36595474C>T (hg19) ; chr19:g.36104572C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36104572C>T , CM000681.2:g.36104572C>T	GRCh38
NC_000019.9:g.36595474C>T , CM000681.1:g.36595474C>T	GRCh37
NC_000019.8:g.41287314C>T	NCBI36
NG_028101.1:g.54692C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270301.12:c.4193C>T	ENSP00000270301.6:p.Pro1398Leu
ENST00000401500.7:c.4208C>T MANE Select	ENSP00000384792.1:p.Pro1403Leu
ENST00000587391.6:c.*4068C>T	ENSP00000465525.1:n.*4068C>T
ENST00000679357.1:c.2288C>T
ENST00000679598.1:c.953C>T
ENST00000679682.1:c.4193C>T	ENSP00000506226.1:p.Pro1398Leu
ENST00000679714.1:c.4202C>T	ENSP00000506627.1:p.Pro1401Leu
ENST00000679757.1:c.3857C>T	ENSP00000505158.1:p.Pro1286Leu
ENST00000679858.1:c.*3590C>T	ENSP00000505655.1:n.*3590C>T
ENST00000680211.1:c.809C>T	ENSP00000506102.1:p.Pro270Leu
ENST00000680280.1:n.1711C>T
ENST00000680349.1:n.2857C>T
ENST00000680403.1:c.4193C>T	ENSP00000505677.1:p.Pro1398Leu
ENST00000680564.1:c.3959C>T	ENSP00000505582.1:p.Pro1320Leu
ENST00000680590.1:c.*2588C>T	ENSP00000505350.1:n.*2588C>T
ENST00000680597.1:c.941C>T
ENST00000680739.1:c.1223C>T
ENST00000680773.1:n.2709C>T
ENST00000680806.1:c.*3511C>T	ENSP00000506418.1:n.*3511C>T
ENST00000680997.1:n.2140C>T
ENST00000681608.1:n.2053C>T
ENST00000681625.1:c.*1540C>T	ENSP00000505555.1:n.*1540C>T
ENST00000681648.1:n.2259C>T
ENST00000270301.11:c.4193C>T	ENSP00000270301.6:p.Pro1398Leu
ENST00000401500.6:c.4208C>T	ENSP00000384792.1:p.Pro1403Leu
ENST00000587391.5:c.*4068C>T	ENSP00000465525.1:n.*4068C>T
NM_001083961.1:c.4208C>T	NP_001077430.1:p.Pro1403Leu
NM_173636.4:c.4193C>T	NP_775907.4:p.Pro1398Leu
XM_005258809.2:c.4097C>T	XP_005258866.1:p.Pro1366Leu
XM_011526837.1:c.4193C>T	XP_011525139.1:p.Pro1398Leu
XM_011526838.1:c.3959C>T	XP_011525140.1:p.Pro1320Leu
XM_011526839.1:c.3857C>T	XP_011525141.1:p.Pro1286Leu
XM_011526840.1:c.3200C>T	XP_011525142.1:p.Pro1067Leu
XM_011526841.1:c.2786C>T	XP_011525143.1:p.Pro929Leu
XM_011526842.1:c.2639C>T	XP_011525144.1:p.Pro880Leu
XM_011526843.1:c.1955C>T	XP_011525145.1:p.Pro652Leu
XM_011526844.1:c.1955C>T	XP_011525146.1:p.Pro652Leu
XM_011526840.2:c.3200C>T	XP_011525142.1:p.Pro1067Leu
XM_011526841.2:c.2786C>T	XP_011525143.1:p.Pro929Leu
XM_011526844.2:c.1955C>T	XP_011525146.1:p.Pro652Leu
XM_017026665.1:c.4208C>T	XP_016882154.1:p.Pro1403Leu
NM_001083961.2:c.4208C>T MANE Select	NP_001077430.1:p.Pro1403Leu
NM_173636.5:c.4193C>T	NP_775907.4:p.Pro1398Leu