Canonical Allele Identifier: CA4947777

Gene: RECQL4

Linked Data

• dbSNP Id: rs533732397
• ExAC: 8:145737249 G / A
• gnomAD v2: 8-145737249-G-A
• gnomAD v3: 8-144511866-G-A
• gnomAD v4: 8-144511866-G-A
• MyVariant Identifiers: chr8:g.145737249G>A (hg19) ; chr8:g.144511866G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511866G>A , CM000670.2:g.144511866G>A	GRCh38
NC_000008.10:g.145737249G>A , CM000670.1:g.145737249G>A	GRCh37
NC_000008.9:g.145708057G>A	NCBI36
NG_016430.1:g.10961C>T
NG_016430.2:g.10961C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+45C>T MANE Select	ENSP00000482313.2:n.3393+45C>T
ENST00000301323.7:c.410+45C>T
ENST00000529424.2:n.50-77C>T
ENST00000531875.2:c.648+36C>T	ENSP00000477910.1:n.648+36C>T
ENST00000617875.4:c.3393+45C>T	ENSP00000482313.1:n.3393+45C>T
ENST00000621189.4:c.2322+45C>T	ENSP00000483145.1:n.2322+45C>T
NM_004260.3:c.3393+45C>T	NP_004251.3:n.3393+45C>T
XM_011517380.1:c.3468+45C>T	XP_011515682.1:n.3468+45C>T
XM_011517381.1:c.3372+45C>T	XP_011515683.1:n.3372+45C>T
XM_011517382.1:c.3276+45C>T	XP_011515684.1:n.3276+45C>T
XM_011517383.1:c.3270+45C>T	XP_011515685.1:n.3270+45C>T
XM_011517384.1:c.3195+45C>T	XP_011515686.1:n.3195+45C>T
XM_011517385.1:c.2331+45C>T	XP_011515687.1:n.2331+45C>T
XR_928366.1:n.3353-77C>T
XR_928367.1:n.3448+45C>T
XR_928368.1:n.3341+45C>T
XM_011517384.3:c.3195+45C>T	XP_011515686.1:n.3195+45C>T
XM_017013991.2:c.3603C>T	XP_016869480.1:p.Pro1201=
XM_017013992.2:c.3528C>T	XP_016869481.1:p.Pro1176=
XM_017013993.2:c.3513C>T	XP_016869482.1:p.Pro1171=
XM_017013994.2:c.3507C>T	XP_016869483.1:p.Pro1169=
XM_017013995.2:c.3438C>T	XP_016869484.1:p.Pro1146=
XM_017013996.2:c.3558+45C>T	XP_016869485.1:n.3558+45C>T
XM_017013997.2:c.3405C>T	XP_016869486.1:p.Pro1135=
XM_017013998.1:c.3483+45C>T	XP_016869487.1:n.3483+45C>T
XM_017013999.2:c.3315C>T	XP_016869488.1:p.Pro1105=
XM_017014000.1:c.2466C>T	XP_016869489.1:p.Pro822=
XM_017014001.2:c.2376C>T	XP_016869490.1:p.Pro792=
XR_001745626.2:n.3439-77C>T
XR_001745627.2:n.3534+45C>T
XR_001745628.2:n.3425+45C>T
XR_001745629.2:n.3288+45C>T
XR_001745630.2:n.3090+45C>T
NM_004260.4:c.3393+45C>T MANE Select	NP_004251.4:n.3393+45C>T