Canonical Allele Identifier: CA1826366095
Community Standard Title: NM_004260.4(RECQL4):c.2823C= (p.Thr941=)
Gene: RECQL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144512704G= , CM000670.2:g.144512704G= GRCh38
NC_000008.10:g.145738087G= , CM000670.1:g.145738087G= GRCh37
NC_000008.9:g.145708895G= NCBI36
NG_016430.1:g.10123C=
NG_016430.2:g.10123C=

Transcript Alleles

HGVS Amino-acid Change
NM_004260.4:c.2823C= MANE Select NP_004251.4:p.Thr941=
ENST00000617875.6:c.2823C= MANE Select ENSP00000482313.2:p.Thr941=
NM_004260.3:c.2823C= NP_004251.3:p.Thr941=
ENST00000301323.7:c.10C=
ENST00000531875.2:c.69C= ENSP00000477910.1:p.Thr23=
ENST00000534626.6:c.994C=
ENST00000617875.4:c.2823C= ENSP00000482313.1:p.Thr941=
ENST00000621189.4:c.1752C= ENSP00000483145.1:p.Thr584=
XM_011517380.1:c.2898C= XP_011515682.1:p.Thr966=
XM_011517381.1:c.2802C= XP_011515683.1:p.Thr934=
XM_011517382.1:c.2706C= XP_011515684.1:p.Thr902=
XM_011517383.1:c.2700C= XP_011515685.1:p.Thr900=
XM_011517384.1:c.2625C= XP_011515686.1:p.Thr875=
XM_011517384.3:c.2625C= XP_011515686.1:p.Thr875=
XM_011517385.1:c.1761C= XP_011515687.1:p.Thr587=
XM_017013991.2:c.2988C= XP_016869480.1:p.Thr996=
XM_017013992.2:c.2913C= XP_016869481.1:p.Thr971=
XM_017013993.2:c.2898C= XP_016869482.1:p.Thr966=
XM_017013994.2:c.2892C= XP_016869483.1:p.Thr964=
XM_017013995.2:c.2823C= XP_016869484.1:p.Thr941=
XM_017013996.2:c.2988C= XP_016869485.1:p.Thr996=
XM_017013997.2:c.2790C= XP_016869486.1:p.Thr930=
XM_017013998.1:c.2913C= XP_016869487.1:p.Thr971=
XM_017013999.2:c.2700C= XP_016869488.1:p.Thr900=
XM_017014000.1:c.1851C= XP_016869489.1:p.Thr617=
XM_017014001.2:c.1761C= XP_016869490.1:p.Thr587=
XR_001745626.2:n.3025C=
XR_001745627.2:n.3025C=
XR_001745628.2:n.3025C=
XR_001745629.2:n.2718C=
XR_001745630.2:n.2520C=
XR_928366.1:n.2939C=
XR_928367.1:n.2939C=
XR_928368.1:n.2941C=