Canonical Allele Identifier: CA4947975

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144512437G>A , CM000670.2:g.144512437G>A	GRCh38
NC_000008.10:g.145737820G>A , CM000670.1:g.145737820G>A	GRCh37
NC_000008.9:g.145708628G>A	NCBI36
NG_016430.1:g.10390C>T
NG_016430.2:g.10390C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3010C>T MANE Select	ENSP00000482313.2:p.Arg1004Trp
ENST00000301323.7:c.73-113C>T
ENST00000531875.2:c.256C>T	ENSP00000477910.1:p.Arg86Trp
ENST00000617875.4:c.3010C>T	ENSP00000482313.1:p.Arg1004Trp
ENST00000621189.4:c.1939C>T	ENSP00000483145.1:p.Arg647Trp
NM_004260.3:c.3010C>T	NP_004251.3:p.Arg1004Trp
XM_011517380.1:c.3085C>T	XP_011515682.1:p.Arg1029Trp
XM_011517381.1:c.2989C>T	XP_011515683.1:p.Arg997Trp
XM_011517382.1:c.2893C>T	XP_011515684.1:p.Arg965Trp
XM_011517383.1:c.2887C>T	XP_011515685.1:p.Arg963Trp
XM_011517384.1:c.2812C>T	XP_011515686.1:p.Arg938Trp
XM_011517385.1:c.1948C>T	XP_011515687.1:p.Arg650Trp
XR_928366.1:n.3126C>T
XR_928367.1:n.3126C>T
XR_928368.1:n.3004-113C>T
XM_011517384.3:c.2812C>T	XP_011515686.1:p.Arg938Trp
XM_017013991.2:c.3175C>T	XP_016869480.1:p.Arg1059Trp
XM_017013992.2:c.3100C>T	XP_016869481.1:p.Arg1034Trp
XM_017013993.2:c.3085C>T	XP_016869482.1:p.Arg1029Trp
XM_017013994.2:c.3079C>T	XP_016869483.1:p.Arg1027Trp
XM_017013995.2:c.3010C>T	XP_016869484.1:p.Arg1004Trp
XM_017013996.2:c.3175C>T	XP_016869485.1:p.Arg1059Trp
XM_017013997.2:c.2977C>T	XP_016869486.1:p.Arg993Trp
XM_017013998.1:c.3100C>T	XP_016869487.1:p.Arg1034Trp
XM_017013999.2:c.2887C>T	XP_016869488.1:p.Arg963Trp
XM_017014000.1:c.2038C>T	XP_016869489.1:p.Arg680Trp
XM_017014001.2:c.1948C>T	XP_016869490.1:p.Arg650Trp
XR_001745626.2:n.3212C>T
XR_001745627.2:n.3212C>T
XR_001745628.2:n.3088-113C>T
XR_001745629.2:n.2905C>T
XR_001745630.2:n.2707C>T
NM_004260.4:c.3010C>T MANE Select	NP_004251.4:p.Arg1004Trp