Canonical Allele Identifier: CA1826369832
Gene: RECQL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144517377G= , CM000670.2:g.144517377G= GRCh38
NC_000008.10:g.145742761G= , CM000670.1:g.145742761G= GRCh37
NC_000008.9:g.145713569G= NCBI36
NG_016430.1:g.5450C=
NG_033083.1:g.4413G=
NG_016430.2:g.5450C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000617875.6:c.213+37C= MANE Select ENSP00000482313.2:n.213+37C=
ENST00000524998.1:c.86+37C=
ENST00000534270.1:n.159+37C=
ENST00000534538.1:c.167+37C=
ENST00000617875.4:c.213+37C= ENSP00000482313.1:n.213+37C=
ENST00000621189.4:c.-859+37C= ENSP00000483145.1:n.-859+37C=
NM_004260.3:c.213+37C= NP_004251.3:n.213+37C=
XM_011517380.1:c.213+37C= XP_011515682.1:n.213+37C=
XM_011517381.1:c.213+37C= XP_011515683.1:n.213+37C=
XM_011517382.1:c.213+37C= XP_011515684.1:n.213+37C=
XM_011517383.1:c.213+37C= XP_011515685.1:n.213+37C=
XM_011517384.1:c.213+37C= XP_011515686.1:n.213+37C=
XR_928366.1:n.254+37C=
XR_928367.1:n.254+37C=
XR_928368.1:n.256+37C=
XM_011517384.3:c.213+37C= XP_011515686.1:n.213+37C=
XM_017013991.2:c.213+37C= XP_016869480.1:n.213+37C=
XM_017013992.2:c.213+37C= XP_016869481.1:n.213+37C=
XM_017013993.2:c.213+37C= XP_016869482.1:n.213+37C=
XM_017013994.2:c.213+37C= XP_016869483.1:n.213+37C=
XM_017013995.2:c.213+37C= XP_016869484.1:n.213+37C=
XM_017013996.2:c.213+37C= XP_016869485.1:n.213+37C=
XM_017013997.2:c.213+37C= XP_016869486.1:n.213+37C=
XM_017013998.1:c.213+37C= XP_016869487.1:n.213+37C=
XM_017013999.2:c.213+37C= XP_016869488.1:n.213+37C=
XM_017014001.2:c.-921+37C= XP_016869490.1:n.-921+37C=
XR_001745626.2:n.250+37C=
XR_001745627.2:n.250+37C=
XR_001745628.2:n.250+37C=
XR_001745629.2:n.250+37C=
XR_001745630.2:n.250+37C=
NM_004260.4:c.213+37C= MANE Select NP_004251.4:n.213+37C=