Canonical Allele Identifier: CA161835

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 135139
• ClinVar RCV Id: RCV000121940 ; RCV000466267 ; RCV001824616 ; RCV002256068 ; RCV003237729
• dbSNP Id: rs571684398
• ExAC: 8:145738644 C / T
• gnomAD v2: 8-145738644-C-T
• gnomAD v3: 8-144513261-C-T
• gnomAD v4: 8-144513261-C-T
• COSMIC: COSN15633630 ; COSN15657575
• MyVariant Identifiers: chr8:g.145738644C>T (hg19) ; chr8:g.144513261C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144513261C>T , CM000670.2:g.144513261C>T	GRCh38
NC_000008.10:g.145738644C>T , CM000670.1:g.145738644C>T	GRCh37
NC_000008.9:g.145709452C>T	NCBI36
NG_016430.1:g.9566G>A
NG_033083.1:g.296C>T
NG_016430.2:g.9566G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.2420G>A MANE Select	ENSP00000482313.2:p.Arg807His
ENST00000534626.6:c.635-123G>A
ENST00000617875.4:c.2420G>A	ENSP00000482313.1:p.Arg807His
ENST00000621189.4:c.1349G>A	ENSP00000483145.1:p.Arg450His
NM_004260.3:c.2420G>A	NP_004251.3:p.Arg807His
XM_011517380.1:c.2420G>A	XP_011515682.1:p.Arg807His
XM_011517381.1:c.2324G>A	XP_011515683.1:p.Arg775His
XM_011517382.1:c.2266-38G>A	XP_011515684.1:n.2266-38G>A
XM_011517383.1:c.2266-123G>A	XP_011515685.1:n.2266-123G>A
XM_011517384.1:c.2266-123G>A	XP_011515686.1:n.2266-123G>A
XM_011517385.1:c.1283G>A	XP_011515687.1:p.Arg428His
XR_928366.1:n.2461G>A
XR_928367.1:n.2461G>A
XR_928368.1:n.2463G>A
XM_011517384.3:c.2266-123G>A	XP_011515686.1:n.2266-123G>A
XM_017013991.2:c.2510G>A	XP_016869480.1:p.Arg837His
XM_017013992.2:c.2510G>A	XP_016869481.1:p.Arg837His
XM_017013993.2:c.2420G>A	XP_016869482.1:p.Arg807His
XM_017013994.2:c.2414G>A	XP_016869483.1:p.Arg805His
XM_017013995.2:c.2420G>A	XP_016869484.1:p.Arg807His
XM_017013996.2:c.2510G>A	XP_016869485.1:p.Arg837His
XM_017013997.2:c.2356-123G>A	XP_016869486.1:n.2356-123G>A
XM_017013998.1:c.2510G>A	XP_016869487.1:p.Arg837His
XM_017013999.2:c.2266-123G>A	XP_016869488.1:n.2266-123G>A
XM_017014000.1:c.1373G>A	XP_016869489.1:p.Arg458His
XM_017014001.2:c.1283G>A	XP_016869490.1:p.Arg428His
XR_001745626.2:n.2547G>A
XR_001745627.2:n.2547G>A
XR_001745628.2:n.2547G>A
XR_001745629.2:n.2315G>A
XR_001745630.2:n.2161-123G>A
NM_004260.4:c.2420G>A MANE Select	NP_004251.4:p.Arg807His