Canonical Allele Identifier: CA2689128934

Gene: RECQL4

Linked Data

• gnomAD v4: 8-144511881-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511881C>G , CM000670.2:g.144511881C>G	GRCh38
NC_000008.10:g.145737264C>G , CM000670.1:g.145737264C>G	GRCh37
NC_000008.9:g.145708072C>G	NCBI36
NG_016430.1:g.10946G>C
NG_016430.2:g.10946G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+30G>C MANE Select	ENSP00000482313.2:n.3393+30G>C
ENST00000301323.7:c.410+30G>C
ENST00000529424.2:n.50-92G>C
ENST00000531875.2:c.648+21G>C	ENSP00000477910.1:n.648+21G>C
ENST00000617875.4:c.3393+30G>C	ENSP00000482313.1:n.3393+30G>C
ENST00000621189.4:c.2322+30G>C	ENSP00000483145.1:n.2322+30G>C
NM_004260.3:c.3393+30G>C	NP_004251.3:n.3393+30G>C
XM_011517380.1:c.3468+30G>C	XP_011515682.1:n.3468+30G>C
XM_011517381.1:c.3372+30G>C	XP_011515683.1:n.3372+30G>C
XM_011517382.1:c.3276+30G>C	XP_011515684.1:n.3276+30G>C
XM_011517383.1:c.3270+30G>C	XP_011515685.1:n.3270+30G>C
XM_011517384.1:c.3195+30G>C	XP_011515686.1:n.3195+30G>C
XM_011517385.1:c.2331+30G>C	XP_011515687.1:n.2331+30G>C
XR_928366.1:n.3353-92G>C
XR_928367.1:n.3448+30G>C
XR_928368.1:n.3341+30G>C
XM_011517384.3:c.3195+30G>C	XP_011515686.1:n.3195+30G>C
XM_017013991.2:c.3588G>C	XP_016869480.1:p.Ser1196=
XM_017013992.2:c.3513G>C	XP_016869481.1:p.Ser1171=
XM_017013993.2:c.3498G>C	XP_016869482.1:p.Ser1166=
XM_017013994.2:c.3492G>C	XP_016869483.1:p.Ser1164=
XM_017013995.2:c.3423G>C	XP_016869484.1:p.Ser1141=
XM_017013996.2:c.3558+30G>C	XP_016869485.1:n.3558+30G>C
XM_017013997.2:c.3390G>C	XP_016869486.1:p.Ser1130=
XM_017013998.1:c.3483+30G>C	XP_016869487.1:n.3483+30G>C
XM_017013999.2:c.3300G>C	XP_016869488.1:p.Ser1100=
XM_017014000.1:c.2451G>C	XP_016869489.1:p.Ser817=
XM_017014001.2:c.2361G>C	XP_016869490.1:p.Ser787=
XR_001745626.2:n.3439-92G>C
XR_001745627.2:n.3534+30G>C
XR_001745628.2:n.3425+30G>C
XR_001745629.2:n.3288+30G>C
XR_001745630.2:n.3090+30G>C
NM_004260.4:c.3393+30G>C MANE Select	NP_004251.4:n.3393+30G>C