Canonical Allele Identifier: CA2718730181

Gene: RECQL4

Linked Data

• dbSNP Id: rs2130653016

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511855C>T , CM000670.2:g.144511855C>T	GRCh38
NC_000008.10:g.145737238C>T , CM000670.1:g.145737238C>T	GRCh37
NC_000008.9:g.145708046C>T	NCBI36
NG_016430.1:g.10972G>A
NG_016430.2:g.10972G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+56G>A MANE Select	ENSP00000482313.2:n.3393+56G>A
ENST00000301323.7:c.410+56G>A
ENST00000529424.2:n.50-66G>A
ENST00000531875.2:c.648+47G>A	ENSP00000477910.1:n.648+47G>A
ENST00000617875.4:c.3393+56G>A	ENSP00000482313.1:n.3393+56G>A
ENST00000621189.4:c.2322+56G>A	ENSP00000483145.1:n.2322+56G>A
NM_004260.3:c.3393+56G>A	NP_004251.3:n.3393+56G>A
XM_011517380.1:c.3468+56G>A	XP_011515682.1:n.3468+56G>A
XM_011517381.1:c.3372+56G>A	XP_011515683.1:n.3372+56G>A
XM_011517382.1:c.3276+56G>A	XP_011515684.1:n.3276+56G>A
XM_011517383.1:c.3270+56G>A	XP_011515685.1:n.3270+56G>A
XM_011517384.1:c.3195+56G>A	XP_011515686.1:n.3195+56G>A
XM_011517385.1:c.2331+56G>A	XP_011515687.1:n.2331+56G>A
XR_928366.1:n.3353-66G>A
XR_928367.1:n.3448+56G>A
XR_928368.1:n.3341+56G>A
XM_011517384.3:c.3195+56G>A	XP_011515686.1:n.3195+56G>A
XM_017013991.2:c.3614G>A	XP_016869480.1:p.Trp1205Ter
XM_017013992.2:c.3539G>A	XP_016869481.1:p.Trp1180Ter
XM_017013993.2:c.3524G>A	XP_016869482.1:p.Trp1175Ter
XM_017013994.2:c.3518G>A	XP_016869483.1:p.Trp1173Ter
XM_017013995.2:c.3449G>A	XP_016869484.1:p.Trp1150Ter
XM_017013996.2:c.3558+56G>A	XP_016869485.1:n.3558+56G>A
XM_017013997.2:c.3416G>A	XP_016869486.1:p.Trp1139Ter
XM_017013998.1:c.3483+56G>A	XP_016869487.1:n.3483+56G>A
XM_017013999.2:c.3326G>A	XP_016869488.1:p.Trp1109Ter
XM_017014000.1:c.2477G>A	XP_016869489.1:p.Trp826Ter
XM_017014001.2:c.2387G>A	XP_016869490.1:p.Trp796Ter
XR_001745626.2:n.3439-66G>A
XR_001745627.2:n.3534+56G>A
XR_001745628.2:n.3425+56G>A
XR_001745629.2:n.3288+56G>A
XR_001745630.2:n.3090+56G>A
NM_004260.4:c.3393+56G>A MANE Select	NP_004251.4:n.3393+56G>A