Canonical Allele Identifier: CA4948080

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144512758C>T , CM000670.2:g.144512758C>T	GRCh38
NC_000008.10:g.145738141C>T , CM000670.1:g.145738141C>T	GRCh37
NC_000008.9:g.145708949C>T	NCBI36
NG_016430.1:g.10069G>A
NG_016430.2:g.10069G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.2769G>A MANE Select	ENSP00000482313.2:p.Leu923=
ENST00000531875.2:c.15G>A	ENSP00000477910.1:p.Leu5=
ENST00000534626.6:c.940G>A
ENST00000617875.4:c.2769G>A	ENSP00000482313.1:p.Leu923=
ENST00000621189.4:c.1698G>A	ENSP00000483145.1:p.Leu566=
NM_004260.3:c.2769G>A	NP_004251.3:p.Leu923=
XM_011517380.1:c.2844G>A	XP_011515682.1:p.Leu948=
XM_011517381.1:c.2748G>A	XP_011515683.1:p.Leu916=
XM_011517382.1:c.2652G>A	XP_011515684.1:p.Leu884=
XM_011517383.1:c.2646G>A	XP_011515685.1:p.Leu882=
XM_011517384.1:c.2571G>A	XP_011515686.1:p.Leu857=
XM_011517385.1:c.1707G>A	XP_011515687.1:p.Leu569=
XR_928366.1:n.2885G>A
XR_928367.1:n.2885G>A
XR_928368.1:n.2887G>A
XM_011517384.3:c.2571G>A	XP_011515686.1:p.Leu857=
XM_017013991.2:c.2934G>A	XP_016869480.1:p.Leu978=
XM_017013992.2:c.2859G>A	XP_016869481.1:p.Leu953=
XM_017013993.2:c.2844G>A	XP_016869482.1:p.Leu948=
XM_017013994.2:c.2838G>A	XP_016869483.1:p.Leu946=
XM_017013995.2:c.2769G>A	XP_016869484.1:p.Leu923=
XM_017013996.2:c.2934G>A	XP_016869485.1:p.Leu978=
XM_017013997.2:c.2736G>A	XP_016869486.1:p.Leu912=
XM_017013998.1:c.2859G>A	XP_016869487.1:p.Leu953=
XM_017013999.2:c.2646G>A	XP_016869488.1:p.Leu882=
XM_017014000.1:c.1797G>A	XP_016869489.1:p.Leu599=
XM_017014001.2:c.1707G>A	XP_016869490.1:p.Leu569=
XR_001745626.2:n.2971G>A
XR_001745627.2:n.2971G>A
XR_001745628.2:n.2971G>A
XR_001745629.2:n.2664G>A
XR_001745630.2:n.2466G>A
NM_004260.4:c.2769G>A MANE Select	NP_004251.4:p.Leu923=