Canonical Allele Identifier: CA4948359

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144513421G>A , CM000670.2:g.144513421G>A	GRCh38
NC_000008.10:g.145738805G>A , CM000670.1:g.145738805G>A	GRCh37
NC_000008.9:g.145709613G>A	NCBI36
NG_016430.1:g.9406C>T
NG_033083.1:g.457G>A
NG_016430.2:g.9406C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.2260C>T MANE Select	ENSP00000482313.2:p.Arg754Trp
ENST00000534626.6:c.629C>T
ENST00000617875.4:c.2260C>T	ENSP00000482313.1:p.Arg754Trp
ENST00000621189.4:c.1189C>T	ENSP00000483145.1:p.Arg397Trp
NM_004260.3:c.2260C>T	NP_004251.3:p.Arg754Trp
XM_011517380.1:c.2260C>T	XP_011515682.1:p.Arg754Trp
XM_011517381.1:c.2164C>T	XP_011515683.1:p.Arg722Trp
XM_011517382.1:c.2260C>T	XP_011515684.1:p.Arg754Trp
XM_011517383.1:c.2260C>T	XP_011515685.1:p.Arg754Trp
XM_011517384.1:c.2260C>T	XP_011515686.1:p.Arg754Trp
XM_011517385.1:c.1123C>T	XP_011515687.1:p.Arg375Trp
XR_928366.1:n.2301C>T
XR_928367.1:n.2301C>T
XR_928368.1:n.2303C>T
XM_011517384.3:c.2260C>T	XP_011515686.1:p.Arg754Trp
XM_017013991.2:c.2350C>T	XP_016869480.1:p.Arg784Trp
XM_017013992.2:c.2350C>T	XP_016869481.1:p.Arg784Trp
XM_017013993.2:c.2260C>T	XP_016869482.1:p.Arg754Trp
XM_017013994.2:c.2254C>T	XP_016869483.1:p.Arg752Trp
XM_017013995.2:c.2260C>T	XP_016869484.1:p.Arg754Trp
XM_017013996.2:c.2350C>T	XP_016869485.1:p.Arg784Trp
XM_017013997.2:c.2350C>T	XP_016869486.1:p.Arg784Trp
XM_017013998.1:c.2350C>T	XP_016869487.1:p.Arg784Trp
XM_017013999.2:c.2260C>T	XP_016869488.1:p.Arg754Trp
XM_017014000.1:c.1213C>T	XP_016869489.1:p.Arg405Trp
XM_017014001.2:c.1123C>T	XP_016869490.1:p.Arg375Trp
XR_001745626.2:n.2387C>T
XR_001745627.2:n.2387C>T
XR_001745628.2:n.2387C>T
XR_001745629.2:n.2155C>T
XR_001745630.2:n.2155C>T
NM_004260.4:c.2260C>T MANE Select	NP_004251.4:p.Arg754Trp