Canonical Allele Identifier: CA1826365447

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511903G= , CM000670.2:g.144511903G=	GRCh38
NC_000008.10:g.145737286G= , CM000670.1:g.145737286G=	GRCh37
NC_000008.9:g.145708094G=	NCBI36
NG_016430.1:g.10924C=
NG_016430.2:g.10924C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+8C= MANE Select	ENSP00000482313.2:n.3393+8C=
ENST00000301323.7:c.410+8C=
ENST00000529424.2:n.50-114C=
ENST00000531875.2:c.647C=	ENSP00000477910.1:p.Ala216=
ENST00000617875.4:c.3393+8C=	ENSP00000482313.1:n.3393+8C=
ENST00000621189.4:c.2322+8C=	ENSP00000483145.1:n.2322+8C=
NM_004260.3:c.3393+8C=	NP_004251.3:n.3393+8C=
XM_011517380.1:c.3468+8C=	XP_011515682.1:n.3468+8C=
XM_011517381.1:c.3372+8C=	XP_011515683.1:n.3372+8C=
XM_011517382.1:c.3276+8C=	XP_011515684.1:n.3276+8C=
XM_011517383.1:c.3270+8C=	XP_011515685.1:n.3270+8C=
XM_011517384.1:c.3195+8C=	XP_011515686.1:n.3195+8C=
XM_011517385.1:c.2331+8C=	XP_011515687.1:n.2331+8C=
XR_928366.1:n.3353-114C=
XR_928367.1:n.3448+8C=
XR_928368.1:n.3341+8C=
XM_011517384.3:c.3195+8C=	XP_011515686.1:n.3195+8C=
XM_017013991.2:c.3566C=	XP_016869480.1:p.Ala1189=
XM_017013992.2:c.3491C=	XP_016869481.1:p.Ala1164=
XM_017013993.2:c.3476C=	XP_016869482.1:p.Ala1159=
XM_017013994.2:c.3470C=	XP_016869483.1:p.Ala1157=
XM_017013995.2:c.3401C=	XP_016869484.1:p.Ala1134=
XM_017013996.2:c.3558+8C=	XP_016869485.1:n.3558+8C=
XM_017013997.2:c.3368C=	XP_016869486.1:p.Ala1123=
XM_017013998.1:c.3483+8C=	XP_016869487.1:n.3483+8C=
XM_017013999.2:c.3278C=	XP_016869488.1:p.Ala1093=
XM_017014000.1:c.2429C=	XP_016869489.1:p.Ala810=
XM_017014001.2:c.2339C=	XP_016869490.1:p.Ala780=
XR_001745626.2:n.3439-114C=
XR_001745627.2:n.3534+8C=
XR_001745628.2:n.3425+8C=
XR_001745629.2:n.3288+8C=
XR_001745630.2:n.3090+8C=
NM_004260.4:c.3393+8C= MANE Select	NP_004251.4:n.3393+8C=