Canonical Allele Identifier: CA2579282987

Gene: RECQL4

Linked Data

• gnomAD v4: 8-144511884-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511884T>G , CM000670.2:g.144511884T>G	GRCh38
NC_000008.10:g.145737267T>G , CM000670.1:g.145737267T>G	GRCh37
NC_000008.9:g.145708075T>G	NCBI36
NG_016430.1:g.10943A>C
NG_016430.2:g.10943A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+27A>C MANE Select	ENSP00000482313.2:n.3393+27A>C
ENST00000301323.7:c.410+27A>C
ENST00000529424.2:n.50-95A>C
ENST00000531875.2:c.648+18A>C	ENSP00000477910.1:n.648+18A>C
ENST00000617875.4:c.3393+27A>C	ENSP00000482313.1:n.3393+27A>C
ENST00000621189.4:c.2322+27A>C	ENSP00000483145.1:n.2322+27A>C
NM_004260.3:c.3393+27A>C	NP_004251.3:n.3393+27A>C
XM_011517380.1:c.3468+27A>C	XP_011515682.1:n.3468+27A>C
XM_011517381.1:c.3372+27A>C	XP_011515683.1:n.3372+27A>C
XM_011517382.1:c.3276+27A>C	XP_011515684.1:n.3276+27A>C
XM_011517383.1:c.3270+27A>C	XP_011515685.1:n.3270+27A>C
XM_011517384.1:c.3195+27A>C	XP_011515686.1:n.3195+27A>C
XM_011517385.1:c.2331+27A>C	XP_011515687.1:n.2331+27A>C
XR_928366.1:n.3353-95A>C
XR_928367.1:n.3448+27A>C
XR_928368.1:n.3341+27A>C
XM_011517384.3:c.3195+27A>C	XP_011515686.1:n.3195+27A>C
XM_017013991.2:c.3585A>C	XP_016869480.1:p.Ser1195=
XM_017013992.2:c.3510A>C	XP_016869481.1:p.Ser1170=
XM_017013993.2:c.3495A>C	XP_016869482.1:p.Ser1165=
XM_017013994.2:c.3489A>C	XP_016869483.1:p.Ser1163=
XM_017013995.2:c.3420A>C	XP_016869484.1:p.Ser1140=
XM_017013996.2:c.3558+27A>C	XP_016869485.1:n.3558+27A>C
XM_017013997.2:c.3387A>C	XP_016869486.1:p.Ser1129=
XM_017013998.1:c.3483+27A>C	XP_016869487.1:n.3483+27A>C
XM_017013999.2:c.3297A>C	XP_016869488.1:p.Ser1099=
XM_017014000.1:c.2448A>C	XP_016869489.1:p.Ser816=
XM_017014001.2:c.2358A>C	XP_016869490.1:p.Ser786=
XR_001745626.2:n.3439-95A>C
XR_001745627.2:n.3534+27A>C
XR_001745628.2:n.3425+27A>C
XR_001745629.2:n.3288+27A>C
XR_001745630.2:n.3090+27A>C
NM_004260.4:c.3393+27A>C MANE Select	NP_004251.4:n.3393+27A>C