Canonical Allele Identifier: CA1826365424
Gene: RECQL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144511879C= , CM000670.2:g.144511879C= GRCh38
NC_000008.10:g.145737262C= , CM000670.1:g.145737262C= GRCh37
NC_000008.9:g.145708070C= NCBI36
NG_016430.1:g.10948G=
NG_016430.2:g.10948G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000617875.6:c.3393+32G= MANE Select ENSP00000482313.2:n.3393+32G=
ENST00000301323.7:c.410+32G=
ENST00000529424.2:n.50-90G=
ENST00000531875.2:c.648+23G= ENSP00000477910.1:n.648+23G=
ENST00000617875.4:c.3393+32G= ENSP00000482313.1:n.3393+32G=
ENST00000621189.4:c.2322+32G= ENSP00000483145.1:n.2322+32G=
NM_004260.3:c.3393+32G= NP_004251.3:n.3393+32G=
XM_011517380.1:c.3468+32G= XP_011515682.1:n.3468+32G=
XM_011517381.1:c.3372+32G= XP_011515683.1:n.3372+32G=
XM_011517382.1:c.3276+32G= XP_011515684.1:n.3276+32G=
XM_011517383.1:c.3270+32G= XP_011515685.1:n.3270+32G=
XM_011517384.1:c.3195+32G= XP_011515686.1:n.3195+32G=
XM_011517385.1:c.2331+32G= XP_011515687.1:n.2331+32G=
XR_928366.1:n.3353-90G=
XR_928367.1:n.3448+32G=
XR_928368.1:n.3341+32G=
XM_011517384.3:c.3195+32G= XP_011515686.1:n.3195+32G=
XM_017013991.2:c.3590G= XP_016869480.1:p.Gly1197=
XM_017013992.2:c.3515G= XP_016869481.1:p.Gly1172=
XM_017013993.2:c.3500G= XP_016869482.1:p.Gly1167=
XM_017013994.2:c.3494G= XP_016869483.1:p.Gly1165=
XM_017013995.2:c.3425G= XP_016869484.1:p.Gly1142=
XM_017013996.2:c.3558+32G= XP_016869485.1:n.3558+32G=
XM_017013997.2:c.3392G= XP_016869486.1:p.Gly1131=
XM_017013998.1:c.3483+32G= XP_016869487.1:n.3483+32G=
XM_017013999.2:c.3302G= XP_016869488.1:p.Gly1101=
XM_017014000.1:c.2453G= XP_016869489.1:p.Gly818=
XM_017014001.2:c.2363G= XP_016869490.1:p.Gly788=
XR_001745626.2:n.3439-90G=
XR_001745627.2:n.3534+32G=
XR_001745628.2:n.3425+32G=
XR_001745629.2:n.3288+32G=
XR_001745630.2:n.3090+32G=
NM_004260.4:c.3393+32G= MANE Select NP_004251.4:n.3393+32G=