Canonical Allele Identifier: CA4947621

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511436G>A , CM000670.2:g.144511436G>A	GRCh38
NC_000008.10:g.145736819G>A , CM000670.1:g.145736819G>A	GRCh37
NC_000008.9:g.145707627G>A	NCBI36
NG_016430.1:g.11391C>T
NG_016430.2:g.11391C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3622C>T MANE Select	ENSP00000482313.2:p.Arg1208Cys
ENST00000301323.7:c.639C>T
ENST00000529424.2:n.278C>T
ENST00000531875.2:c.877C>T	ENSP00000477910.1:p.Arg293Cys
ENST00000617875.4:c.3622C>T	ENSP00000482313.1:p.Arg1208Cys
ENST00000621189.4:c.2551C>T	ENSP00000483145.1:p.Arg851Cys
NM_004260.3:c.3622C>T	NP_004251.3:p.Arg1208Cys
XM_011517380.1:c.3697C>T	XP_011515682.1:p.Arg1233Cys
XM_011517381.1:c.3601C>T	XP_011515683.1:p.Arg1201Cys
XM_011517382.1:c.3505C>T	XP_011515684.1:p.Arg1169Cys
XM_011517383.1:c.3499C>T	XP_011515685.1:p.Arg1167Cys
XM_011517384.1:c.3424C>T	XP_011515686.1:p.Arg1142Cys
XM_011517385.1:c.2560C>T	XP_011515687.1:p.Arg854Cys
XR_928366.1:n.3581C>T
XR_928367.1:n.3677C>T
XR_928368.1:n.3570C>T
XM_011517384.3:c.3424C>T	XP_011515686.1:p.Arg1142Cys
XM_017013991.2:c.3908C>T	XP_016869480.1:p.Pro1303Leu
XM_017013992.2:c.3833C>T	XP_016869481.1:p.Pro1278Leu
XM_017013993.2:c.3818C>T	XP_016869482.1:p.Pro1273Leu
XM_017013994.2:c.3812C>T	XP_016869483.1:p.Pro1271Leu
XM_017013995.2:c.3743C>T	XP_016869484.1:p.Pro1248Leu
XM_017013996.2:c.3787C>T	XP_016869485.1:p.Arg1263Cys
XM_017013997.2:c.3710C>T	XP_016869486.1:p.Pro1237Leu
XM_017013998.1:c.3712C>T	XP_016869487.1:p.Arg1238Cys
XM_017013999.2:c.3620C>T	XP_016869488.1:p.Pro1207Leu
XM_017014000.1:c.2771C>T	XP_016869489.1:p.Pro924Leu
XM_017014001.2:c.2681C>T	XP_016869490.1:p.Pro894Leu
XR_001745626.2:n.3667C>T
XR_001745627.2:n.3763C>T
XR_001745628.2:n.3654C>T
XR_001745629.2:n.3517C>T
XR_001745630.2:n.3319C>T
NM_004260.4:c.3622C>T MANE Select	NP_004251.4:p.Arg1208Cys