Canonical Allele Identifier: CA2782587963

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511837C>A , CM000670.2:g.144511837C>A	GRCh38
NC_000008.10:g.145737220C>A , CM000670.1:g.145737220C>A	GRCh37
NC_000008.9:g.145708028C>A	NCBI36
NG_016430.1:g.10990G>T
NG_016430.2:g.10990G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3394-48G>T MANE Select	ENSP00000482313.2:n.3394-48G>T
ENST00000301323.7:c.411-48G>T
ENST00000529424.2:n.50-48G>T
ENST00000531875.2:c.649-48G>T	ENSP00000477910.1:n.649-48G>T
ENST00000617875.4:c.3394-48G>T	ENSP00000482313.1:n.3394-48G>T
ENST00000621189.4:c.2323-48G>T	ENSP00000483145.1:n.2323-48G>T
NM_004260.3:c.3394-48G>T	NP_004251.3:n.3394-48G>T
XM_011517380.1:c.3469-48G>T	XP_011515682.1:n.3469-48G>T
XM_011517381.1:c.3373-48G>T	XP_011515683.1:n.3373-48G>T
XM_011517382.1:c.3277-48G>T	XP_011515684.1:n.3277-48G>T
XM_011517383.1:c.3271-48G>T	XP_011515685.1:n.3271-48G>T
XM_011517384.1:c.3196-48G>T	XP_011515686.1:n.3196-48G>T
XM_011517385.1:c.2332-48G>T	XP_011515687.1:n.2332-48G>T
XR_928366.1:n.3353-48G>T
XR_928367.1:n.3449-48G>T
XR_928368.1:n.3342-48G>T
XM_011517384.3:c.3196-48G>T	XP_011515686.1:n.3196-48G>T
XM_017013991.2:c.3632G>T	XP_016869480.1:p.Cys1211Phe
XM_017013992.2:c.3557G>T	XP_016869481.1:p.Cys1186Phe
XM_017013993.2:c.3542G>T	XP_016869482.1:p.Cys1181Phe
XM_017013994.2:c.3536G>T	XP_016869483.1:p.Cys1179Phe
XM_017013995.2:c.3467G>T	XP_016869484.1:p.Cys1156Phe
XM_017013996.2:c.3559-48G>T	XP_016869485.1:n.3559-48G>T
XM_017013997.2:c.3434G>T	XP_016869486.1:p.Cys1145Phe
XM_017013998.1:c.3484-48G>T	XP_016869487.1:n.3484-48G>T
XM_017013999.2:c.3344G>T	XP_016869488.1:p.Cys1115Phe
XM_017014000.1:c.2495G>T	XP_016869489.1:p.Cys832Phe
XM_017014001.2:c.2405G>T	XP_016869490.1:p.Cys802Phe
XR_001745626.2:n.3439-48G>T
XR_001745627.2:n.3535-48G>T
XR_001745628.2:n.3426-48G>T
XR_001745629.2:n.3289-48G>T
XR_001745630.2:n.3091-48G>T
NM_004260.4:c.3394-48G>T MANE Select	NP_004251.4:n.3394-48G>T