Canonical Allele Identifier: CA1826365389
Gene: RECQL4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144511825C= , CM000670.2:g.144511825C= GRCh38
NC_000008.10:g.145737208C= , CM000670.1:g.145737208C= GRCh37
NC_000008.9:g.145708016C= NCBI36
NG_016430.1:g.11002G=
NG_016430.2:g.11002G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000617875.6:c.3394-36G= MANE Select ENSP00000482313.2:n.3394-36G=
ENST00000301323.7:c.411-36G=
ENST00000529424.2:n.50-36G=
ENST00000531875.2:c.649-36G= ENSP00000477910.1:n.649-36G=
ENST00000617875.4:c.3394-36G= ENSP00000482313.1:n.3394-36G=
ENST00000621189.4:c.2323-36G= ENSP00000483145.1:n.2323-36G=
NM_004260.3:c.3394-36G= NP_004251.3:n.3394-36G=
XM_011517380.1:c.3469-36G= XP_011515682.1:n.3469-36G=
XM_011517381.1:c.3373-36G= XP_011515683.1:n.3373-36G=
XM_011517382.1:c.3277-36G= XP_011515684.1:n.3277-36G=
XM_011517383.1:c.3271-36G= XP_011515685.1:n.3271-36G=
XM_011517384.1:c.3196-36G= XP_011515686.1:n.3196-36G=
XM_011517385.1:c.2332-36G= XP_011515687.1:n.2332-36G=
XR_928366.1:n.3353-36G=
XR_928367.1:n.3449-36G=
XR_928368.1:n.3342-36G=
XM_011517384.3:c.3196-36G= XP_011515686.1:n.3196-36G=
XM_017013991.2:c.3644G= XP_016869480.1:p.Gly1215=
XM_017013992.2:c.3569G= XP_016869481.1:p.Gly1190=
XM_017013993.2:c.3554G= XP_016869482.1:p.Gly1185=
XM_017013994.2:c.3548G= XP_016869483.1:p.Gly1183=
XM_017013995.2:c.3479G= XP_016869484.1:p.Gly1160=
XM_017013996.2:c.3559-36G= XP_016869485.1:n.3559-36G=
XM_017013997.2:c.3446G= XP_016869486.1:p.Gly1149=
XM_017013998.1:c.3484-36G= XP_016869487.1:n.3484-36G=
XM_017013999.2:c.3356G= XP_016869488.1:p.Gly1119=
XM_017014000.1:c.2507G= XP_016869489.1:p.Gly836=
XM_017014001.2:c.2417G= XP_016869490.1:p.Gly806=
XR_001745626.2:n.3439-36G=
XR_001745627.2:n.3535-36G=
XR_001745628.2:n.3426-36G=
XR_001745629.2:n.3289-36G=
XR_001745630.2:n.3091-36G=
NM_004260.4:c.3394-36G= MANE Select NP_004251.4:n.3394-36G=