Canonical Allele Identifier: CA4947789

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 1538846
• ClinVar RCV Id: RCV002176740
• dbSNP Id: rs776076152
• ExAC: 8:145737277 G / A
• gnomAD v2: 8-145737277-G-A
• gnomAD v4: 8-144511894-G-A
• MyVariant Identifiers: chr8:g.145737277G>A (hg19) ; chr8:g.144511894G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511894G>A , CM000670.2:g.144511894G>A	GRCh38
NC_000008.10:g.145737277G>A , CM000670.1:g.145737277G>A	GRCh37
NC_000008.9:g.145708085G>A	NCBI36
NG_016430.1:g.10933C>T
NG_016430.2:g.10933C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+17C>T MANE Select	ENSP00000482313.2:n.3393+17C>T
ENST00000301323.7:c.410+17C>T
ENST00000529424.2:n.50-105C>T
ENST00000531875.2:c.648+8C>T	ENSP00000477910.1:n.648+8C>T
ENST00000617875.4:c.3393+17C>T	ENSP00000482313.1:n.3393+17C>T
ENST00000621189.4:c.2322+17C>T	ENSP00000483145.1:n.2322+17C>T
NM_004260.3:c.3393+17C>T	NP_004251.3:n.3393+17C>T
XM_011517380.1:c.3468+17C>T	XP_011515682.1:n.3468+17C>T
XM_011517381.1:c.3372+17C>T	XP_011515683.1:n.3372+17C>T
XM_011517382.1:c.3276+17C>T	XP_011515684.1:n.3276+17C>T
XM_011517383.1:c.3270+17C>T	XP_011515685.1:n.3270+17C>T
XM_011517384.1:c.3195+17C>T	XP_011515686.1:n.3195+17C>T
XM_011517385.1:c.2331+17C>T	XP_011515687.1:n.2331+17C>T
XR_928366.1:n.3353-105C>T
XR_928367.1:n.3448+17C>T
XR_928368.1:n.3341+17C>T
XM_011517384.3:c.3195+17C>T	XP_011515686.1:n.3195+17C>T
XM_017013991.2:c.3575C>T	XP_016869480.1:p.Pro1192Leu
XM_017013992.2:c.3500C>T	XP_016869481.1:p.Pro1167Leu
XM_017013993.2:c.3485C>T	XP_016869482.1:p.Pro1162Leu
XM_017013994.2:c.3479C>T	XP_016869483.1:p.Pro1160Leu
XM_017013995.2:c.3410C>T	XP_016869484.1:p.Pro1137Leu
XM_017013996.2:c.3558+17C>T	XP_016869485.1:n.3558+17C>T
XM_017013997.2:c.3377C>T	XP_016869486.1:p.Pro1126Leu
XM_017013998.1:c.3483+17C>T	XP_016869487.1:n.3483+17C>T
XM_017013999.2:c.3287C>T	XP_016869488.1:p.Pro1096Leu
XM_017014000.1:c.2438C>T	XP_016869489.1:p.Pro813Leu
XM_017014001.2:c.2348C>T	XP_016869490.1:p.Pro783Leu
XR_001745626.2:n.3439-105C>T
XR_001745627.2:n.3534+17C>T
XR_001745628.2:n.3425+17C>T
XR_001745629.2:n.3288+17C>T
XR_001745630.2:n.3090+17C>T
NM_004260.4:c.3393+17C>T MANE Select	NP_004251.4:n.3393+17C>T