Canonical Allele Identifier: CA4948222

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144513116C>T , CM000670.2:g.144513116C>T	GRCh38
NC_000008.10:g.145738499C>T , CM000670.1:g.145738499C>T	GRCh37
NC_000008.9:g.145709307C>T	NCBI36
NG_016430.1:g.9711G>A
NG_033083.1:g.151C>T
NG_016430.2:g.9711G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.2486G>A MANE Select	ENSP00000482313.2:p.Arg829His
ENST00000534626.6:c.657G>A
ENST00000617875.4:c.2486G>A	ENSP00000482313.1:p.Arg829His
ENST00000621189.4:c.1415G>A	ENSP00000483145.1:p.Arg472His
NM_004260.3:c.2486G>A	NP_004251.3:p.Arg829His
XM_011517380.1:c.2486G>A	XP_011515682.1:p.Arg829His
XM_011517381.1:c.2390G>A	XP_011515683.1:p.Arg797His
XM_011517382.1:c.2294G>A	XP_011515684.1:p.Arg765His
XM_011517383.1:c.2288G>A	XP_011515685.1:p.Arg763His
XM_011517384.1:c.2288G>A	XP_011515686.1:p.Arg763His
XM_011517385.1:c.1349G>A	XP_011515687.1:p.Arg450His
XR_928366.1:n.2527G>A
XR_928367.1:n.2527G>A
XR_928368.1:n.2529G>A
XM_011517384.3:c.2288G>A	XP_011515686.1:p.Arg763His
XM_017013991.2:c.2576G>A	XP_016869480.1:p.Arg859His
XM_017013992.2:c.2576G>A	XP_016869481.1:p.Arg859His
XM_017013993.2:c.2486G>A	XP_016869482.1:p.Arg829His
XM_017013994.2:c.2480G>A	XP_016869483.1:p.Arg827His
XM_017013995.2:c.2486G>A	XP_016869484.1:p.Arg829His
XM_017013996.2:c.2576G>A	XP_016869485.1:p.Arg859His
XM_017013997.2:c.2378G>A	XP_016869486.1:p.Arg793His
XM_017013998.1:c.2576G>A	XP_016869487.1:p.Arg859His
XM_017013999.2:c.2288G>A	XP_016869488.1:p.Arg763His
XM_017014000.1:c.1439G>A	XP_016869489.1:p.Arg480His
XM_017014001.2:c.1349G>A	XP_016869490.1:p.Arg450His
XR_001745626.2:n.2613G>A
XR_001745627.2:n.2613G>A
XR_001745628.2:n.2613G>A
XR_001745629.2:n.2381G>A
XR_001745630.2:n.2183G>A
NM_004260.4:c.2486G>A MANE Select	NP_004251.4:p.Arg829His