Canonical Allele Identifier: CA161861
Gene: RECQL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144511967C>G , CM000670.2:g.144511967C>G GRCh38
NC_000008.10:g.145737350C>G , CM000670.1:g.145737350C>G GRCh37
NC_000008.9:g.145708158C>G NCBI36
NG_016430.1:g.10860G>C
NG_016430.2:g.10860G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617875.6:c.3337G>C MANE Select ENSP00000482313.2:p.Gly1113Arg
ENST00000301323.7:c.354G>C
ENST00000529424.2:n.50-178G>C
ENST00000531875.2:c.583G>C ENSP00000477910.1:p.Gly195Arg
ENST00000617875.4:c.3337G>C ENSP00000482313.1:p.Gly1113Arg
ENST00000621189.4:c.2266G>C ENSP00000483145.1:p.Gly756Arg
NM_004260.3:c.3337G>C NP_004251.3:p.Gly1113Arg
XM_011517380.1:c.3412G>C XP_011515682.1:p.Gly1138Arg
XM_011517381.1:c.3316G>C XP_011515683.1:p.Gly1106Arg
XM_011517382.1:c.3220G>C XP_011515684.1:p.Gly1074Arg
XM_011517383.1:c.3214G>C XP_011515685.1:p.Gly1072Arg
XM_011517384.1:c.3139G>C XP_011515686.1:p.Gly1047Arg
XM_011517385.1:c.2275G>C XP_011515687.1:p.Gly759Arg
XR_928366.1:n.3353-178G>C
XR_928367.1:n.3392G>C
XR_928368.1:n.3285G>C
XM_011517384.3:c.3139G>C XP_011515686.1:p.Gly1047Arg
XM_017013991.2:c.3502G>C XP_016869480.1:p.Gly1168Arg
XM_017013992.2:c.3427G>C XP_016869481.1:p.Gly1143Arg
XM_017013993.2:c.3412G>C XP_016869482.1:p.Gly1138Arg
XM_017013994.2:c.3406G>C XP_016869483.1:p.Gly1136Arg
XM_017013995.2:c.3337G>C XP_016869484.1:p.Gly1113Arg
XM_017013996.2:c.3502G>C XP_016869485.1:p.Gly1168Arg
XM_017013997.2:c.3304G>C XP_016869486.1:p.Gly1102Arg
XM_017013998.1:c.3427G>C XP_016869487.1:p.Gly1143Arg
XM_017013999.2:c.3214G>C XP_016869488.1:p.Gly1072Arg
XM_017014000.1:c.2365G>C XP_016869489.1:p.Gly789Arg
XM_017014001.2:c.2275G>C XP_016869490.1:p.Gly759Arg
XR_001745626.2:n.3439-178G>C
XR_001745627.2:n.3478G>C
XR_001745628.2:n.3369G>C
XR_001745629.2:n.3232G>C
XR_001745630.2:n.3034G>C
NM_004260.4:c.3337G>C MANE Select NP_004251.4:p.Gly1113Arg