Canonical Allele Identifier: CA4948321

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 459395
• ClinVar RCV Id: RCV000546096 ; RCV000766009 ; RCV001561659
• dbSNP Id: rs536096413
• ExAC: 8:145738713 C / T
• gnomAD v2: 8-145738713-C-T
• gnomAD v3: 8-144513330-C-T
• gnomAD v4: 8-144513330-C-T
• MyVariant Identifiers: chr8:g.145738713C>T (hg19) ; chr8:g.144513330C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144513330C>T , CM000670.2:g.144513330C>T	GRCh38
NC_000008.10:g.145738713C>T , CM000670.1:g.145738713C>T	GRCh37
NC_000008.9:g.145709521C>T	NCBI36
NG_016430.1:g.9497G>A
NG_033083.1:g.365C>T
NG_016430.2:g.9497G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.2351G>A MANE Select	ENSP00000482313.2:p.Arg784Gln
ENST00000534626.6:c.634+86G>A
ENST00000617875.4:c.2351G>A	ENSP00000482313.1:p.Arg784Gln
ENST00000621189.4:c.1280G>A	ENSP00000483145.1:p.Arg427Gln
NM_004260.3:c.2351G>A	NP_004251.3:p.Arg784Gln
XM_011517380.1:c.2351G>A	XP_011515682.1:p.Arg784Gln
XM_011517381.1:c.2255G>A	XP_011515683.1:p.Arg752Gln
XM_011517382.1:c.2265+86G>A	XP_011515684.1:n.2265+86G>A
XM_011517383.1:c.2265+86G>A	XP_011515685.1:n.2265+86G>A
XM_011517384.1:c.2265+86G>A	XP_011515686.1:n.2265+86G>A
XM_011517385.1:c.1214G>A	XP_011515687.1:p.Arg405Gln
XR_928366.1:n.2392G>A
XR_928367.1:n.2392G>A
XR_928368.1:n.2394G>A
XM_011517384.3:c.2265+86G>A	XP_011515686.1:n.2265+86G>A
XM_017013991.2:c.2441G>A	XP_016869480.1:p.Arg814Gln
XM_017013992.2:c.2441G>A	XP_016869481.1:p.Arg814Gln
XM_017013993.2:c.2351G>A	XP_016869482.1:p.Arg784Gln
XM_017013994.2:c.2345G>A	XP_016869483.1:p.Arg782Gln
XM_017013995.2:c.2351G>A	XP_016869484.1:p.Arg784Gln
XM_017013996.2:c.2441G>A	XP_016869485.1:p.Arg814Gln
XM_017013997.2:c.2355+86G>A	XP_016869486.1:n.2355+86G>A
XM_017013998.1:c.2441G>A	XP_016869487.1:p.Arg814Gln
XM_017013999.2:c.2265+86G>A	XP_016869488.1:n.2265+86G>A
XM_017014000.1:c.1304G>A	XP_016869489.1:p.Arg435Gln
XM_017014001.2:c.1214G>A	XP_016869490.1:p.Arg405Gln
XR_001745626.2:n.2478G>A
XR_001745627.2:n.2478G>A
XR_001745628.2:n.2478G>A
XR_001745629.2:n.2246G>A
XR_001745630.2:n.2160+86G>A
NM_004260.4:c.2351G>A MANE Select	NP_004251.4:p.Arg784Gln