Canonical Allele Identifier: CA1826368844
Gene: RECQL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144516079C= , CM000670.2:g.144516079C= GRCh38
NC_000008.10:g.145741463C= , CM000670.1:g.145741463C= GRCh37
NC_000008.9:g.145712271C= NCBI36
NG_016430.1:g.6748G=
NG_033083.1:g.3115C=
NG_016430.2:g.6748G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000617875.6:c.1040G= MANE Select ENSP00000482313.2:p.Arg347=
ENST00000524998.1:c.562G=
ENST00000617875.4:c.1040G= ENSP00000482313.1:p.Arg347=
ENST00000621189.4:c.-32G= ENSP00000483145.1:n.-32G=
NM_004260.3:c.1040G= NP_004251.3:p.Arg347=
XM_011517380.1:c.1040G= XP_011515682.1:p.Arg347=
XM_011517381.1:c.954-10G= XP_011515683.1:n.954-10G=
XM_011517382.1:c.1040G= XP_011515684.1:p.Arg347=
XM_011517383.1:c.1040G= XP_011515685.1:p.Arg347=
XM_011517384.1:c.1040G= XP_011515686.1:p.Arg347=
XM_011517385.1:c.-94G= XP_011515687.1:n.-94G=
XR_928366.1:n.1081G=
XR_928367.1:n.1081G=
XR_928368.1:n.1083G=
XM_011517384.3:c.1040G= XP_011515686.1:p.Arg347=
XM_017013991.2:c.1040G= XP_016869480.1:p.Arg347=
XM_017013992.2:c.1040G= XP_016869481.1:p.Arg347=
XM_017013993.2:c.1040G= XP_016869482.1:p.Arg347=
XM_017013994.2:c.954-10G= XP_016869483.1:n.954-10G=
XM_017013995.2:c.1040G= XP_016869484.1:p.Arg347=
XM_017013996.2:c.1040G= XP_016869485.1:p.Arg347=
XM_017013997.2:c.1040G= XP_016869486.1:p.Arg347=
XM_017013998.1:c.1040G= XP_016869487.1:p.Arg347=
XM_017013999.2:c.1040G= XP_016869488.1:p.Arg347=
XM_017014000.1:c.-94G= XP_016869489.1:n.-94G=
XM_017014001.2:c.-94G= XP_016869490.1:n.-94G=
XR_001745626.2:n.1077G=
XR_001745627.2:n.1077G=
XR_001745628.2:n.1077G=
XR_001745629.2:n.1077G=
XR_001745630.2:n.1077G=
NM_004260.4:c.1040G= MANE Select NP_004251.4:p.Arg347=