Canonical Allele Identifier: CA372669126

Gene: RECQL4

Linked Data

• dbSNP Id: rs2130655878
• MyVariant Identifiers: chr8:g.145737418T>A (hg19) ; chr8:g.144512035T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144512035T>A , CM000670.2:g.144512035T>A	GRCh38
NC_000008.10:g.145737418T>A , CM000670.1:g.145737418T>A	GRCh37
NC_000008.9:g.145708226T>A	NCBI36
NG_016430.1:g.10792A>T
NG_016430.2:g.10792A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3269A>T MANE Select	ENSP00000482313.2:p.Glu1090Val
ENST00000301323.7:c.286A>T
ENST00000529424.2:n.50-246A>T
ENST00000531875.2:c.515A>T	ENSP00000477910.1:p.Glu172Val
ENST00000617875.4:c.3269A>T	ENSP00000482313.1:p.Glu1090Val
ENST00000621189.4:c.2198A>T	ENSP00000483145.1:p.Glu733Val
NM_004260.3:c.3269A>T	NP_004251.3:p.Glu1090Val
XM_011517380.1:c.3344A>T	XP_011515682.1:p.Glu1115Val
XM_011517381.1:c.3248A>T	XP_011515683.1:p.Glu1083Val
XM_011517382.1:c.3152A>T	XP_011515684.1:p.Glu1051Val
XM_011517383.1:c.3146A>T	XP_011515685.1:p.Glu1049Val
XM_011517384.1:c.3071A>T	XP_011515686.1:p.Glu1024Val
XM_011517385.1:c.2207A>T	XP_011515687.1:p.Glu736Val
XR_928366.1:n.3352+109A>T
XR_928367.1:n.3324A>T
XR_928368.1:n.3217A>T
XM_011517384.3:c.3071A>T	XP_011515686.1:p.Glu1024Val
XM_017013991.2:c.3434A>T	XP_016869480.1:p.Glu1145Val
XM_017013992.2:c.3359A>T	XP_016869481.1:p.Glu1120Val
XM_017013993.2:c.3344A>T	XP_016869482.1:p.Glu1115Val
XM_017013994.2:c.3338A>T	XP_016869483.1:p.Glu1113Val
XM_017013995.2:c.3269A>T	XP_016869484.1:p.Glu1090Val
XM_017013996.2:c.3434A>T	XP_016869485.1:p.Glu1145Val
XM_017013997.2:c.3236A>T	XP_016869486.1:p.Glu1079Val
XM_017013998.1:c.3359A>T	XP_016869487.1:p.Glu1120Val
XM_017013999.2:c.3146A>T	XP_016869488.1:p.Glu1049Val
XM_017014000.1:c.2297A>T	XP_016869489.1:p.Glu766Val
XM_017014001.2:c.2207A>T	XP_016869490.1:p.Glu736Val
XR_001745626.2:n.3438+109A>T
XR_001745627.2:n.3410A>T
XR_001745628.2:n.3301A>T
XR_001745629.2:n.3164A>T
XR_001745630.2:n.2966A>T
NM_004260.4:c.3269A>T MANE Select	NP_004251.4:p.Glu1090Val