Canonical Allele Identifier: CA4948084

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144512766C>T , CM000670.2:g.144512766C>T	GRCh38
NC_000008.10:g.145738149C>T , CM000670.1:g.145738149C>T	GRCh37
NC_000008.9:g.145708957C>T	NCBI36
NG_016430.1:g.10061G>A
NG_016430.2:g.10061G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004260.4:c.2761G>A MANE Select	NP_004251.4:p.Glu921Lys
ENST00000617875.6:c.2761G>A MANE Select	ENSP00000482313.2:p.Glu921Lys
NM_004260.3:c.2761G>A	NP_004251.3:p.Glu921Lys
ENST00000531875.2:c.7G>A	ENSP00000477910.1:p.Glu3Lys
ENST00000534626.6:c.932G>A
ENST00000617875.4:c.2761G>A	ENSP00000482313.1:p.Glu921Lys
ENST00000621189.4:c.1690G>A	ENSP00000483145.1:p.Glu564Lys
XM_011517380.1:c.2836G>A	XP_011515682.1:p.Glu946Lys
XM_011517381.1:c.2740G>A	XP_011515683.1:p.Glu914Lys
XM_011517382.1:c.2644G>A	XP_011515684.1:p.Glu882Lys
XM_011517383.1:c.2638G>A	XP_011515685.1:p.Glu880Lys
XM_011517384.1:c.2563G>A	XP_011515686.1:p.Glu855Lys
XM_011517384.3:c.2563G>A	XP_011515686.1:p.Glu855Lys
XM_011517385.1:c.1699G>A	XP_011515687.1:p.Glu567Lys
XM_017013991.2:c.2926G>A	XP_016869480.1:p.Glu976Lys
XM_017013992.2:c.2851G>A	XP_016869481.1:p.Glu951Lys
XM_017013993.2:c.2836G>A	XP_016869482.1:p.Glu946Lys
XM_017013994.2:c.2830G>A	XP_016869483.1:p.Glu944Lys
XM_017013995.2:c.2761G>A	XP_016869484.1:p.Glu921Lys
XM_017013996.2:c.2926G>A	XP_016869485.1:p.Glu976Lys
XM_017013997.2:c.2728G>A	XP_016869486.1:p.Glu910Lys
XM_017013998.1:c.2851G>A	XP_016869487.1:p.Glu951Lys
XM_017013999.2:c.2638G>A	XP_016869488.1:p.Glu880Lys
XM_017014000.1:c.1789G>A	XP_016869489.1:p.Glu597Lys
XM_017014001.2:c.1699G>A	XP_016869490.1:p.Glu567Lys
XR_001745626.2:n.2963G>A
XR_001745627.2:n.2963G>A
XR_001745628.2:n.2963G>A
XR_001745629.2:n.2656G>A
XR_001745630.2:n.2458G>A
XR_928366.1:n.2877G>A
XR_928367.1:n.2877G>A
XR_928368.1:n.2879G>A