Canonical Allele Identifier: CA1826365456

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511917C= , CM000670.2:g.144511917C=	GRCh38
NC_000008.10:g.145737300C= , CM000670.1:g.145737300C=	GRCh37
NC_000008.9:g.145708108C=	NCBI36
NG_016430.1:g.10910G=
NG_016430.2:g.10910G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3387G= MANE Select	ENSP00000482313.2:p.Gln1129=
ENST00000301323.7:c.404G=
ENST00000529424.2:n.50-128G=
ENST00000531875.2:c.633G=	ENSP00000477910.1:p.Gln211=
ENST00000617875.4:c.3387G=	ENSP00000482313.1:p.Gln1129=
ENST00000621189.4:c.2316G=	ENSP00000483145.1:p.Gln772=
NM_004260.3:c.3387G=	NP_004251.3:p.Gln1129=
XM_011517380.1:c.3462G=	XP_011515682.1:p.Gln1154=
XM_011517381.1:c.3366G=	XP_011515683.1:p.Gln1122=
XM_011517382.1:c.3270G=	XP_011515684.1:p.Gln1090=
XM_011517383.1:c.3264G=	XP_011515685.1:p.Gln1088=
XM_011517384.1:c.3189G=	XP_011515686.1:p.Gln1063=
XM_011517385.1:c.2325G=	XP_011515687.1:p.Gln775=
XR_928366.1:n.3353-128G=
XR_928367.1:n.3442G=
XR_928368.1:n.3335G=
XM_011517384.3:c.3189G=	XP_011515686.1:p.Gln1063=
XM_017013991.2:c.3552G=	XP_016869480.1:p.Gln1184=
XM_017013992.2:c.3477G=	XP_016869481.1:p.Gln1159=
XM_017013993.2:c.3462G=	XP_016869482.1:p.Gln1154=
XM_017013994.2:c.3456G=	XP_016869483.1:p.Gln1152=
XM_017013995.2:c.3387G=	XP_016869484.1:p.Gln1129=
XM_017013996.2:c.3552G=	XP_016869485.1:p.Gln1184=
XM_017013997.2:c.3354G=	XP_016869486.1:p.Gln1118=
XM_017013998.1:c.3477G=	XP_016869487.1:p.Gln1159=
XM_017013999.2:c.3264G=	XP_016869488.1:p.Gln1088=
XM_017014000.1:c.2415G=	XP_016869489.1:p.Gln805=
XM_017014001.2:c.2325G=	XP_016869490.1:p.Gln775=
XR_001745626.2:n.3439-128G=
XR_001745627.2:n.3528G=
XR_001745628.2:n.3419G=
XR_001745629.2:n.3282G=
XR_001745630.2:n.3084G=
NM_004260.4:c.3387G= MANE Select	NP_004251.4:p.Gln1129=