Canonical Allele Identifier: CA4948194

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144513059C>T , CM000670.2:g.144513059C>T	GRCh38
NC_000008.10:g.145738442C>T , CM000670.1:g.145738442C>T	GRCh37
NC_000008.9:g.145709250C>T	NCBI36
NG_016430.1:g.9768G>A
NG_033083.1:g.94C>T
NG_016430.2:g.9768G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.2543G>A MANE Select	ENSP00000482313.2:p.Arg848His
ENST00000534626.6:c.714G>A
ENST00000617875.4:c.2543G>A	ENSP00000482313.1:p.Arg848His
ENST00000621189.4:c.1472G>A	ENSP00000483145.1:p.Arg491His
NM_004260.3:c.2543G>A	NP_004251.3:p.Arg848His
XM_011517380.1:c.2543G>A	XP_011515682.1:p.Arg848His
XM_011517381.1:c.2447G>A	XP_011515683.1:p.Arg816His
XM_011517382.1:c.2351G>A	XP_011515684.1:p.Arg784His
XM_011517383.1:c.2345G>A	XP_011515685.1:p.Arg782His
XM_011517384.1:c.2345G>A	XP_011515686.1:p.Arg782His
XM_011517385.1:c.1406G>A	XP_011515687.1:p.Arg469His
XR_928366.1:n.2584G>A
XR_928367.1:n.2584G>A
XR_928368.1:n.2586G>A
XM_011517384.3:c.2345G>A	XP_011515686.1:p.Arg782His
XM_017013991.2:c.2633G>A	XP_016869480.1:p.Arg878His
XM_017013992.2:c.2633G>A	XP_016869481.1:p.Arg878His
XM_017013993.2:c.2543G>A	XP_016869482.1:p.Arg848His
XM_017013994.2:c.2537G>A	XP_016869483.1:p.Arg846His
XM_017013995.2:c.2543G>A	XP_016869484.1:p.Arg848His
XM_017013996.2:c.2633G>A	XP_016869485.1:p.Arg878His
XM_017013997.2:c.2435G>A	XP_016869486.1:p.Arg812His
XM_017013998.1:c.2633G>A	XP_016869487.1:p.Arg878His
XM_017013999.2:c.2345G>A	XP_016869488.1:p.Arg782His
XM_017014000.1:c.1496G>A	XP_016869489.1:p.Arg499His
XM_017014001.2:c.1406G>A	XP_016869490.1:p.Arg469His
XR_001745626.2:n.2670G>A
XR_001745627.2:n.2670G>A
XR_001745628.2:n.2670G>A
XR_001745629.2:n.2438G>A
XR_001745630.2:n.2240G>A
NM_004260.4:c.2543G>A MANE Select	NP_004251.4:p.Arg848His