Canonical Allele Identifier: CA9396234

Gene: WDR62

Linked Data

• ClinVar Variation Id: 1327895
• ClinVar RCV Id: RCV001794837 ; RCV002541278
• dbSNP Id: rs551013571
• ExAC: 19:36593694 C / G
• gnomAD v2: 19-36593694-C-G
• gnomAD v3: 19-36102792-C-G
• gnomAD v4: 19-36102792-C-G
• MyVariant Identifiers: chr19:g.36593694C>G (hg19) ; chr19:g.36102792C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.36102792C>G , CM000681.2:g.36102792C>G	GRCh38
NC_000019.9:g.36593694C>G , CM000681.1:g.36593694C>G	GRCh37
NC_000019.8:g.41285534C>G	NCBI36
NG_028101.1:g.52912C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270301.12:c.3261C>G	ENSP00000270301.6:p.Phe1087Leu
ENST00000401500.7:c.3276C>G MANE Select	ENSP00000384792.1:p.Phe1092Leu
ENST00000587391.6:c.*3136C>G	ENSP00000465525.1:n.*3136C>G
ENST00000679357.1:c.1356C>G
ENST00000679598.1:c.41C>G
ENST00000679682.1:c.3261C>G	ENSP00000506226.1:p.Phe1087Leu
ENST00000679714.1:c.3270C>G	ENSP00000506627.1:p.Phe1090Leu
ENST00000679757.1:c.2925C>G	ENSP00000505158.1:p.Phe975Leu
ENST00000679858.1:c.*2658C>G	ENSP00000505655.1:n.*2658C>G
ENST00000680211.1:c.-124C>G	ENSP00000506102.1:n.-124C>G
ENST00000680280.1:n.563C>G
ENST00000680349.1:n.1844C>G
ENST00000680403.1:c.3261C>G	ENSP00000505677.1:p.Phe1087Leu
ENST00000680564.1:c.3027C>G	ENSP00000505582.1:p.Phe1009Leu
ENST00000680590.1:c.*1656C>G	ENSP00000505350.1:n.*1656C>G
ENST00000680597.1:c.41C>G
ENST00000680739.1:c.291C>G
ENST00000680773.1:n.1777C>G
ENST00000680806.1:c.*2579C>G	ENSP00000506418.1:n.*2579C>G
ENST00000680997.1:n.1208C>G
ENST00000681608.1:n.809C>G
ENST00000681625.1:c.*608C>G	ENSP00000505555.1:n.*608C>G
ENST00000681648.1:n.575C>G
ENST00000270301.11:c.3261C>G	ENSP00000270301.6:p.Phe1087Leu
ENST00000401500.6:c.3276C>G	ENSP00000384792.1:p.Phe1092Leu
ENST00000587391.5:c.*3136C>G	ENSP00000465525.1:n.*3136C>G
NM_001083961.1:c.3276C>G	NP_001077430.1:p.Phe1092Leu
NM_173636.4:c.3261C>G	NP_775907.4:p.Phe1087Leu
XM_005258809.2:c.3165C>G	XP_005258866.1:p.Phe1055Leu
XM_011526837.1:c.3261C>G	XP_011525139.1:p.Phe1087Leu
XM_011526838.1:c.3027C>G	XP_011525140.1:p.Phe1009Leu
XM_011526839.1:c.2925C>G	XP_011525141.1:p.Phe975Leu
XM_011526840.1:c.2268C>G	XP_011525142.1:p.Phe756Leu
XM_011526841.1:c.1854C>G	XP_011525143.1:p.Phe618Leu
XM_011526842.1:c.1707C>G	XP_011525144.1:p.Phe569Leu
XM_011526843.1:c.1023C>G	XP_011525145.1:p.Phe341Leu
XM_011526844.1:c.1023C>G	XP_011525146.1:p.Phe341Leu
XM_011526840.2:c.2268C>G	XP_011525142.1:p.Phe756Leu
XM_011526841.2:c.1854C>G	XP_011525143.1:p.Phe618Leu
XM_011526844.2:c.1023C>G	XP_011525146.1:p.Phe341Leu
XM_017026665.1:c.3276C>G	XP_016882154.1:p.Phe1092Leu
NM_001083961.2:c.3276C>G MANE Select	NP_001077430.1:p.Phe1092Leu
NM_173636.5:c.3261C>G	NP_775907.4:p.Phe1087Leu