Canonical Allele Identifier: CA1826365452

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511910C= , CM000670.2:g.144511910C=	GRCh38
NC_000008.10:g.145737293C= , CM000670.1:g.145737293C=	GRCh37
NC_000008.9:g.145708101C=	NCBI36
NG_016430.1:g.10917G=
NG_016430.2:g.10917G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+1G= MANE Select	ENSP00000482313.2:n.3393+1G=
ENST00000301323.7:c.410+1G=
ENST00000529424.2:n.50-121G=
ENST00000531875.2:c.640G=	ENSP00000477910.1:p.Val214=
ENST00000617875.4:c.3393+1G=	ENSP00000482313.1:n.3393+1G=
ENST00000621189.4:c.2322+1G=	ENSP00000483145.1:n.2322+1G=
NM_004260.3:c.3393+1G=	NP_004251.3:n.3393+1G=
XM_011517380.1:c.3468+1G=	XP_011515682.1:n.3468+1G=
XM_011517381.1:c.3372+1G=	XP_011515683.1:n.3372+1G=
XM_011517382.1:c.3276+1G=	XP_011515684.1:n.3276+1G=
XM_011517383.1:c.3270+1G=	XP_011515685.1:n.3270+1G=
XM_011517384.1:c.3195+1G=	XP_011515686.1:n.3195+1G=
XM_011517385.1:c.2331+1G=	XP_011515687.1:n.2331+1G=
XR_928366.1:n.3353-121G=
XR_928367.1:n.3448+1G=
XR_928368.1:n.3341+1G=
XM_011517384.3:c.3195+1G=	XP_011515686.1:n.3195+1G=
XM_017013991.2:c.3559G=	XP_016869480.1:p.Val1187=
XM_017013992.2:c.3484G=	XP_016869481.1:p.Val1162=
XM_017013993.2:c.3469G=	XP_016869482.1:p.Val1157=
XM_017013994.2:c.3463G=	XP_016869483.1:p.Val1155=
XM_017013995.2:c.3394G=	XP_016869484.1:p.Val1132=
XM_017013996.2:c.3558+1G=	XP_016869485.1:n.3558+1G=
XM_017013997.2:c.3361G=	XP_016869486.1:p.Val1121=
XM_017013998.1:c.3483+1G=	XP_016869487.1:n.3483+1G=
XM_017013999.2:c.3271G=	XP_016869488.1:p.Val1091=
XM_017014000.1:c.2422G=	XP_016869489.1:p.Val808=
XM_017014001.2:c.2332G=	XP_016869490.1:p.Val778=
XR_001745626.2:n.3439-121G=
XR_001745627.2:n.3534+1G=
XR_001745628.2:n.3425+1G=
XR_001745629.2:n.3288+1G=
XR_001745630.2:n.3090+1G=
NM_004260.4:c.3393+1G= MANE Select	NP_004251.4:n.3393+1G=