Canonical Allele Identifier: CA1826368767
Gene: RECQL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144515985T= , CM000670.2:g.144515985T= GRCh38
NC_000008.10:g.145741369T= , CM000670.1:g.145741369T= GRCh37
NC_000008.9:g.145712177T= NCBI36
NG_016430.1:g.6842A=
NG_033083.1:g.3021T=
NG_016430.2:g.6842A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000617875.6:c.1131+3A= MANE Select ENSP00000482313.2:n.1131+3A=
ENST00000524998.1:c.653+3A=
ENST00000532846.2:c.16+3A=
ENST00000617875.4:c.1131+3A= ENSP00000482313.1:n.1131+3A=
ENST00000621189.4:c.60+3A= ENSP00000483145.1:n.60+3A=
NM_004260.3:c.1131+3A= NP_004251.3:n.1131+3A=
XM_011517380.1:c.1131+3A= XP_011515682.1:n.1131+3A=
XM_011517381.1:c.1035+3A= XP_011515683.1:n.1035+3A=
XM_011517382.1:c.1131+3A= XP_011515684.1:n.1131+3A=
XM_011517383.1:c.1131+3A= XP_011515685.1:n.1131+3A=
XM_011517384.1:c.1131+3A= XP_011515686.1:n.1131+3A=
XM_011517385.1:c.-3+3A= XP_011515687.1:n.-3+3A=
XR_928366.1:n.1172+3A=
XR_928367.1:n.1172+3A=
XR_928368.1:n.1174+3A=
XM_011517384.3:c.1131+3A= XP_011515686.1:n.1131+3A=
XM_017013991.2:c.1131+3A= XP_016869480.1:n.1131+3A=
XM_017013992.2:c.1131+3A= XP_016869481.1:n.1131+3A=
XM_017013993.2:c.1131+3A= XP_016869482.1:n.1131+3A=
XM_017013994.2:c.1035+3A= XP_016869483.1:n.1035+3A=
XM_017013995.2:c.1131+3A= XP_016869484.1:n.1131+3A=
XM_017013996.2:c.1131+3A= XP_016869485.1:n.1131+3A=
XM_017013997.2:c.1131+3A= XP_016869486.1:n.1131+3A=
XM_017013998.1:c.1131+3A= XP_016869487.1:n.1131+3A=
XM_017013999.2:c.1131+3A= XP_016869488.1:n.1131+3A=
XM_017014000.1:c.-3+3A= XP_016869489.1:n.-3+3A=
XM_017014001.2:c.-3+3A= XP_016869490.1:n.-3+3A=
XR_001745626.2:n.1168+3A=
XR_001745627.2:n.1168+3A=
XR_001745628.2:n.1168+3A=
XR_001745629.2:n.1168+3A=
XR_001745630.2:n.1168+3A=
NM_004260.4:c.1131+3A= MANE Select NP_004251.4:n.1131+3A=