Canonical Allele Identifier: CA2782587964

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511844A>T , CM000670.2:g.144511844A>T	GRCh38
NC_000008.10:g.145737227A>T , CM000670.1:g.145737227A>T	GRCh37
NC_000008.9:g.145708035A>T	NCBI36
NG_016430.1:g.10983T>A
NG_016430.2:g.10983T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3394-55T>A MANE Select	ENSP00000482313.2:n.3394-55T>A
ENST00000301323.7:c.411-55T>A
ENST00000529424.2:n.50-55T>A
ENST00000531875.2:c.649-55T>A	ENSP00000477910.1:n.649-55T>A
ENST00000617875.4:c.3394-55T>A	ENSP00000482313.1:n.3394-55T>A
ENST00000621189.4:c.2323-55T>A	ENSP00000483145.1:n.2323-55T>A
NM_004260.3:c.3394-55T>A	NP_004251.3:n.3394-55T>A
XM_011517380.1:c.3469-55T>A	XP_011515682.1:n.3469-55T>A
XM_011517381.1:c.3373-55T>A	XP_011515683.1:n.3373-55T>A
XM_011517382.1:c.3277-55T>A	XP_011515684.1:n.3277-55T>A
XM_011517383.1:c.3271-55T>A	XP_011515685.1:n.3271-55T>A
XM_011517384.1:c.3196-55T>A	XP_011515686.1:n.3196-55T>A
XM_011517385.1:c.2332-55T>A	XP_011515687.1:n.2332-55T>A
XR_928366.1:n.3353-55T>A
XR_928367.1:n.3449-55T>A
XR_928368.1:n.3342-55T>A
XM_011517384.3:c.3196-55T>A	XP_011515686.1:n.3196-55T>A
XM_017013991.2:c.3625T>A	XP_016869480.1:p.Cys1209Ser
XM_017013992.2:c.3550T>A	XP_016869481.1:p.Cys1184Ser
XM_017013993.2:c.3535T>A	XP_016869482.1:p.Cys1179Ser
XM_017013994.2:c.3529T>A	XP_016869483.1:p.Cys1177Ser
XM_017013995.2:c.3460T>A	XP_016869484.1:p.Cys1154Ser
XM_017013996.2:c.3559-55T>A	XP_016869485.1:n.3559-55T>A
XM_017013997.2:c.3427T>A	XP_016869486.1:p.Cys1143Ser
XM_017013998.1:c.3484-55T>A	XP_016869487.1:n.3484-55T>A
XM_017013999.2:c.3337T>A	XP_016869488.1:p.Cys1113Ser
XM_017014000.1:c.2488T>A	XP_016869489.1:p.Cys830Ser
XM_017014001.2:c.2398T>A	XP_016869490.1:p.Cys800Ser
XR_001745626.2:n.3439-55T>A
XR_001745627.2:n.3535-55T>A
XR_001745628.2:n.3426-55T>A
XR_001745629.2:n.3289-55T>A
XR_001745630.2:n.3091-55T>A
NM_004260.4:c.3394-55T>A MANE Select	NP_004251.4:n.3394-55T>A