Canonical Allele Identifier: CA4947631

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511464C>T , CM000670.2:g.144511464C>T	GRCh38
NC_000008.10:g.145736847C>T , CM000670.1:g.145736847C>T	GRCh37
NC_000008.9:g.145707655C>T	NCBI36
NG_016430.1:g.11363G>A
NG_016430.2:g.11363G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3594G>A MANE Select	ENSP00000482313.2:p.Leu1198=
ENST00000301323.7:c.611G>A
ENST00000529424.2:n.250G>A
ENST00000531875.2:c.849G>A	ENSP00000477910.1:p.Leu283=
ENST00000617875.4:c.3594G>A	ENSP00000482313.1:p.Leu1198=
ENST00000621189.4:c.2523G>A	ENSP00000483145.1:p.Leu841=
NM_004260.3:c.3594G>A	NP_004251.3:p.Leu1198=
XM_011517380.1:c.3669G>A	XP_011515682.1:p.Leu1223=
XM_011517381.1:c.3573G>A	XP_011515683.1:p.Leu1191=
XM_011517382.1:c.3477G>A	XP_011515684.1:p.Leu1159=
XM_011517383.1:c.3471G>A	XP_011515685.1:p.Leu1157=
XM_011517384.1:c.3396G>A	XP_011515686.1:p.Leu1132=
XM_011517385.1:c.2532G>A	XP_011515687.1:p.Leu844=
XR_928366.1:n.3553G>A
XR_928367.1:n.3649G>A
XR_928368.1:n.3542G>A
XM_011517384.3:c.3396G>A	XP_011515686.1:p.Leu1132=
XM_017013991.2:c.3880G>A	XP_016869480.1:p.Gly1294Ser
XM_017013992.2:c.3805G>A	XP_016869481.1:p.Gly1269Ser
XM_017013993.2:c.3790G>A	XP_016869482.1:p.Gly1264Ser
XM_017013994.2:c.3784G>A	XP_016869483.1:p.Gly1262Ser
XM_017013995.2:c.3715G>A	XP_016869484.1:p.Gly1239Ser
XM_017013996.2:c.3759G>A	XP_016869485.1:p.Leu1253=
XM_017013997.2:c.3682G>A	XP_016869486.1:p.Gly1228Ser
XM_017013998.1:c.3684G>A	XP_016869487.1:p.Leu1228=
XM_017013999.2:c.3592G>A	XP_016869488.1:p.Gly1198Ser
XM_017014000.1:c.2743G>A	XP_016869489.1:p.Gly915Ser
XM_017014001.2:c.2653G>A	XP_016869490.1:p.Gly885Ser
XR_001745626.2:n.3639G>A
XR_001745627.2:n.3735G>A
XR_001745628.2:n.3626G>A
XR_001745629.2:n.3489G>A
XR_001745630.2:n.3291G>A
NM_004260.4:c.3594G>A MANE Select	NP_004251.4:p.Leu1198=