Canonical Allele Identifier: CA1826368145
Gene: RECQL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144515208C= , CM000670.2:g.144515208C= GRCh38
NC_000008.10:g.145740592C= , CM000670.1:g.145740592C= GRCh37
NC_000008.9:g.145711400C= NCBI36
NG_016430.1:g.7619G=
NG_033083.1:g.2244C=
NG_016430.2:g.7619G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000688394.1:n.448G=
ENST00000617875.6:c.1425G= MANE Select ENSP00000482313.2:p.Gln475=
ENST00000532846.2:c.310G=
ENST00000617875.4:c.1425G= ENSP00000482313.1:p.Gln475=
ENST00000621189.4:c.354G= ENSP00000483145.1:p.Gln118=
NM_004260.3:c.1425G= NP_004251.3:p.Gln475=
XM_011517380.1:c.1425G= XP_011515682.1:p.Gln475=
XM_011517381.1:c.1329G= XP_011515683.1:p.Gln443=
XM_011517382.1:c.1425G= XP_011515684.1:p.Gln475=
XM_011517383.1:c.1425G= XP_011515685.1:p.Gln475=
XM_011517384.1:c.1425G= XP_011515686.1:p.Gln475=
XM_011517385.1:c.288G= XP_011515687.1:p.Gln96=
XR_928366.1:n.1466G=
XR_928367.1:n.1466G=
XR_928368.1:n.1468G=
XM_011517384.3:c.1425G= XP_011515686.1:p.Gln475=
XM_017013991.2:c.1425G= XP_016869480.1:p.Gln475=
XM_017013992.2:c.1425G= XP_016869481.1:p.Gln475=
XM_017013993.2:c.1425G= XP_016869482.1:p.Gln475=
XM_017013994.2:c.1329G= XP_016869483.1:p.Gln443=
XM_017013995.2:c.1425G= XP_016869484.1:p.Gln475=
XM_017013996.2:c.1425G= XP_016869485.1:p.Gln475=
XM_017013997.2:c.1425G= XP_016869486.1:p.Gln475=
XM_017013998.1:c.1425G= XP_016869487.1:p.Gln475=
XM_017013999.2:c.1425G= XP_016869488.1:p.Gln475=
XM_017014000.1:c.288G= XP_016869489.1:p.Gln96=
XM_017014001.2:c.288G= XP_016869490.1:p.Gln96=
XR_001745626.2:n.1462G=
XR_001745627.2:n.1462G=
XR_001745628.2:n.1462G=
XR_001745629.2:n.1462G=
XR_001745630.2:n.1462G=
NM_004260.4:c.1425G= MANE Select NP_004251.4:p.Gln475=