Canonical Allele Identifier: CA1826368947
Gene: RECQL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144516221C= , CM000670.2:g.144516221C= GRCh38
NC_000008.10:g.145741605C= , CM000670.1:g.145741605C= GRCh37
NC_000008.9:g.145712413C= NCBI36
NG_016430.1:g.6606G=
NG_033083.1:g.3257C=
NG_016430.2:g.6606G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000617875.6:c.898G= MANE Select ENSP00000482313.2:p.Gly300=
ENST00000524998.1:c.420G=
ENST00000617875.4:c.898G= ENSP00000482313.1:p.Gly300=
ENST00000621189.4:c.-174G= ENSP00000483145.1:n.-174G=
NM_004260.3:c.898G= NP_004251.3:p.Gly300=
XM_011517380.1:c.898G= XP_011515682.1:p.Gly300=
XM_011517381.1:c.898G= XP_011515683.1:p.Gly300=
XM_011517382.1:c.898G= XP_011515684.1:p.Gly300=
XM_011517383.1:c.898G= XP_011515685.1:p.Gly300=
XM_011517384.1:c.898G= XP_011515686.1:p.Gly300=
XR_928366.1:n.939G=
XR_928367.1:n.939G=
XR_928368.1:n.941G=
XM_011517384.3:c.898G= XP_011515686.1:p.Gly300=
XM_017013991.2:c.898G= XP_016869480.1:p.Gly300=
XM_017013992.2:c.898G= XP_016869481.1:p.Gly300=
XM_017013993.2:c.898G= XP_016869482.1:p.Gly300=
XM_017013994.2:c.898G= XP_016869483.1:p.Gly300=
XM_017013995.2:c.898G= XP_016869484.1:p.Gly300=
XM_017013996.2:c.898G= XP_016869485.1:p.Gly300=
XM_017013997.2:c.898G= XP_016869486.1:p.Gly300=
XM_017013998.1:c.898G= XP_016869487.1:p.Gly300=
XM_017013999.2:c.898G= XP_016869488.1:p.Gly300=
XM_017014001.2:c.-236G= XP_016869490.1:n.-236G=
XR_001745626.2:n.935G=
XR_001745627.2:n.935G=
XR_001745628.2:n.935G=
XR_001745629.2:n.935G=
XR_001745630.2:n.935G=
NM_004260.4:c.898G= MANE Select NP_004251.4:p.Gly300=