Canonical Allele Identifier: CA372668056
Gene: RECQL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1980878
ClinVar RCV Id: RCV002780359

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144511926C>G , CM000670.2:g.144511926C>G GRCh38
NC_000008.10:g.145737309C>G , CM000670.1:g.145737309C>G GRCh37
NC_000008.9:g.145708117C>G NCBI36
NG_016430.1:g.10901G>C
NG_016430.2:g.10901G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617875.6:c.3378G>C MANE Select ENSP00000482313.2:p.Glu1126Asp
ENST00000301323.7:c.395G>C
ENST00000529424.2:n.50-137G>C
ENST00000531875.2:c.624G>C ENSP00000477910.1:p.Glu208Asp
ENST00000617875.4:c.3378G>C ENSP00000482313.1:p.Glu1126Asp
ENST00000621189.4:c.2307G>C ENSP00000483145.1:p.Glu769Asp
NM_004260.3:c.3378G>C NP_004251.3:p.Glu1126Asp
XM_011517380.1:c.3453G>C XP_011515682.1:p.Glu1151Asp
XM_011517381.1:c.3357G>C XP_011515683.1:p.Glu1119Asp
XM_011517382.1:c.3261G>C XP_011515684.1:p.Glu1087Asp
XM_011517383.1:c.3255G>C XP_011515685.1:p.Glu1085Asp
XM_011517384.1:c.3180G>C XP_011515686.1:p.Glu1060Asp
XM_011517385.1:c.2316G>C XP_011515687.1:p.Glu772Asp
XR_928366.1:n.3353-137G>C
XR_928367.1:n.3433G>C
XR_928368.1:n.3326G>C
XM_011517384.3:c.3180G>C XP_011515686.1:p.Glu1060Asp
XM_017013991.2:c.3543G>C XP_016869480.1:p.Glu1181Asp
XM_017013992.2:c.3468G>C XP_016869481.1:p.Glu1156Asp
XM_017013993.2:c.3453G>C XP_016869482.1:p.Glu1151Asp
XM_017013994.2:c.3447G>C XP_016869483.1:p.Glu1149Asp
XM_017013995.2:c.3378G>C XP_016869484.1:p.Glu1126Asp
XM_017013996.2:c.3543G>C XP_016869485.1:p.Glu1181Asp
XM_017013997.2:c.3345G>C XP_016869486.1:p.Glu1115Asp
XM_017013998.1:c.3468G>C XP_016869487.1:p.Glu1156Asp
XM_017013999.2:c.3255G>C XP_016869488.1:p.Glu1085Asp
XM_017014000.1:c.2406G>C XP_016869489.1:p.Glu802Asp
XM_017014001.2:c.2316G>C XP_016869490.1:p.Glu772Asp
XR_001745626.2:n.3439-137G>C
XR_001745627.2:n.3519G>C
XR_001745628.2:n.3410G>C
XR_001745629.2:n.3273G>C
XR_001745630.2:n.3075G>C
NM_004260.4:c.3378G>C MANE Select NP_004251.4:p.Glu1126Asp