Canonical Allele Identifier: CA1826369882
Gene: RECQL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144517433A= , CM000670.2:g.144517433A= GRCh38
NC_000008.10:g.145742817A= , CM000670.1:g.145742817A= GRCh37
NC_000008.9:g.145713625A= NCBI36
NG_016430.1:g.5394T=
NG_033083.1:g.4469A=
NG_016430.2:g.5394T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000617875.6:c.194T= MANE Select ENSP00000482313.2:p.Leu65=
ENST00000524998.1:c.67T=
ENST00000534270.1:n.140T=
ENST00000534538.1:c.148T=
ENST00000617875.4:c.194T= ENSP00000482313.1:p.Leu65=
ENST00000621189.4:c.-878T= ENSP00000483145.1:n.-878T=
NM_004260.3:c.194T= NP_004251.3:p.Leu65=
XM_011517380.1:c.194T= XP_011515682.1:p.Leu65=
XM_011517381.1:c.194T= XP_011515683.1:p.Leu65=
XM_011517382.1:c.194T= XP_011515684.1:p.Leu65=
XM_011517383.1:c.194T= XP_011515685.1:p.Leu65=
XM_011517384.1:c.194T= XP_011515686.1:p.Leu65=
XR_928366.1:n.235T=
XR_928367.1:n.235T=
XR_928368.1:n.237T=
XM_011517384.3:c.194T= XP_011515686.1:p.Leu65=
XM_017013991.2:c.194T= XP_016869480.1:p.Leu65=
XM_017013992.2:c.194T= XP_016869481.1:p.Leu65=
XM_017013993.2:c.194T= XP_016869482.1:p.Leu65=
XM_017013994.2:c.194T= XP_016869483.1:p.Leu65=
XM_017013995.2:c.194T= XP_016869484.1:p.Leu65=
XM_017013996.2:c.194T= XP_016869485.1:p.Leu65=
XM_017013997.2:c.194T= XP_016869486.1:p.Leu65=
XM_017013998.1:c.194T= XP_016869487.1:p.Leu65=
XM_017013999.2:c.194T= XP_016869488.1:p.Leu65=
XM_017014001.2:c.-940T= XP_016869490.1:n.-940T=
XR_001745626.2:n.231T=
XR_001745627.2:n.231T=
XR_001745628.2:n.231T=
XR_001745629.2:n.231T=
XR_001745630.2:n.231T=
NM_004260.4:c.194T= MANE Select NP_004251.4:p.Leu65=