Canonical Allele Identifier: CA161853
Gene: RECQL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144512247C>T , CM000670.2:g.144512247C>T GRCh38
NC_000008.10:g.145737630C>T , CM000670.1:g.145737630C>T GRCh37
NC_000008.9:g.145708438C>T NCBI36
NG_016430.1:g.10580G>A
NG_016430.2:g.10580G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617875.6:c.3133G>A MANE Select ENSP00000482313.2:p.Ala1045Thr
ENST00000301323.7:c.150G>A
ENST00000529424.2:n.49+78G>A
ENST00000531875.2:c.379G>A ENSP00000477910.1:p.Ala127Thr
ENST00000617875.4:c.3133G>A ENSP00000482313.1:p.Ala1045Thr
ENST00000621189.4:c.2062G>A ENSP00000483145.1:p.Ala688Thr
NM_004260.3:c.3133G>A NP_004251.3:p.Ala1045Thr
XM_011517380.1:c.3208G>A XP_011515682.1:p.Ala1070Thr
XM_011517381.1:c.3112G>A XP_011515683.1:p.Ala1038Thr
XM_011517382.1:c.3016G>A XP_011515684.1:p.Ala1006Thr
XM_011517383.1:c.3010G>A XP_011515685.1:p.Ala1004Thr
XM_011517384.1:c.2935G>A XP_011515686.1:p.Ala979Thr
XM_011517385.1:c.2071G>A XP_011515687.1:p.Ala691Thr
XR_928366.1:n.3249G>A
XR_928367.1:n.3188G>A
XR_928368.1:n.3081G>A
XM_011517384.3:c.2935G>A XP_011515686.1:p.Ala979Thr
XM_017013991.2:c.3298G>A XP_016869480.1:p.Ala1100Thr
XM_017013992.2:c.3223G>A XP_016869481.1:p.Ala1075Thr
XM_017013993.2:c.3208G>A XP_016869482.1:p.Ala1070Thr
XM_017013994.2:c.3202G>A XP_016869483.1:p.Ala1068Thr
XM_017013995.2:c.3133G>A XP_016869484.1:p.Ala1045Thr
XM_017013996.2:c.3298G>A XP_016869485.1:p.Ala1100Thr
XM_017013997.2:c.3100G>A XP_016869486.1:p.Ala1034Thr
XM_017013998.1:c.3223G>A XP_016869487.1:p.Ala1075Thr
XM_017013999.2:c.3010G>A XP_016869488.1:p.Ala1004Thr
XM_017014000.1:c.2161G>A XP_016869489.1:p.Ala721Thr
XM_017014001.2:c.2071G>A XP_016869490.1:p.Ala691Thr
XR_001745626.2:n.3335G>A
XR_001745627.2:n.3274G>A
XR_001745628.2:n.3165G>A
XR_001745629.2:n.3028G>A
XR_001745630.2:n.2830G>A
NM_004260.4:c.3133G>A MANE Select NP_004251.4:p.Ala1045Thr