Canonical Allele Identifier: CA1826365563

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144512043G= , CM000670.2:g.144512043G=	GRCh38
NC_000008.10:g.145737426G= , CM000670.1:g.145737426G=	GRCh37
NC_000008.9:g.145708234G=	NCBI36
NG_016430.1:g.10784C=
NG_016430.2:g.10784C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3261C= MANE Select	ENSP00000482313.2:p.Pro1087=
ENST00000301323.7:c.278C=
ENST00000529424.2:n.50-254C=
ENST00000531875.2:c.507C=	ENSP00000477910.1:p.Pro169=
ENST00000617875.4:c.3261C=	ENSP00000482313.1:p.Pro1087=
ENST00000621189.4:c.2190C=	ENSP00000483145.1:p.Pro730=
NM_004260.3:c.3261C=	NP_004251.3:p.Pro1087=
XM_011517380.1:c.3336C=	XP_011515682.1:p.Pro1112=
XM_011517381.1:c.3240C=	XP_011515683.1:p.Pro1080=
XM_011517382.1:c.3144C=	XP_011515684.1:p.Pro1048=
XM_011517383.1:c.3138C=	XP_011515685.1:p.Pro1046=
XM_011517384.1:c.3063C=	XP_011515686.1:p.Pro1021=
XM_011517385.1:c.2199C=	XP_011515687.1:p.Pro733=
XR_928366.1:n.3352+101C=
XR_928367.1:n.3316C=
XR_928368.1:n.3209C=
XM_011517384.3:c.3063C=	XP_011515686.1:p.Pro1021=
XM_017013991.2:c.3426C=	XP_016869480.1:p.Pro1142=
XM_017013992.2:c.3351C=	XP_016869481.1:p.Pro1117=
XM_017013993.2:c.3336C=	XP_016869482.1:p.Pro1112=
XM_017013994.2:c.3330C=	XP_016869483.1:p.Pro1110=
XM_017013995.2:c.3261C=	XP_016869484.1:p.Pro1087=
XM_017013996.2:c.3426C=	XP_016869485.1:p.Pro1142=
XM_017013997.2:c.3228C=	XP_016869486.1:p.Pro1076=
XM_017013998.1:c.3351C=	XP_016869487.1:p.Pro1117=
XM_017013999.2:c.3138C=	XP_016869488.1:p.Pro1046=
XM_017014000.1:c.2289C=	XP_016869489.1:p.Pro763=
XM_017014001.2:c.2199C=	XP_016869490.1:p.Pro733=
XR_001745626.2:n.3438+101C=
XR_001745627.2:n.3402C=
XR_001745628.2:n.3293C=
XR_001745629.2:n.3156C=
XR_001745630.2:n.2958C=
NM_004260.4:c.3261C= MANE Select	NP_004251.4:p.Pro1087=