Canonical Allele Identifier: CA372668059
Gene: RECQL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 935543
ClinVar RCV Id: RCV001204164
dbSNP Id: rs1827286724

Genomic Alleles

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

Transcript Alleles

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