Canonical Allele Identifier: CA4947787

Gene: RECQL4

Linked Data

• dbSNP Id: rs367836099
• ExAC: 8:145737268 G / A
• gnomAD v2: 8-145737268-G-A
• gnomAD v3: 8-144511885-G-A
• gnomAD v4: 8-144511885-G-A
• MyVariant Identifiers: chr8:g.145737268G>A (hg19) ; chr8:g.144511885G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511885G>A , CM000670.2:g.144511885G>A	GRCh38
NC_000008.10:g.145737268G>A , CM000670.1:g.145737268G>A	GRCh37
NC_000008.9:g.145708076G>A	NCBI36
NG_016430.1:g.10942C>T
NG_016430.2:g.10942C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+26C>T MANE Select	ENSP00000482313.2:n.3393+26C>T
ENST00000301323.7:c.410+26C>T
ENST00000529424.2:n.50-96C>T
ENST00000531875.2:c.648+17C>T	ENSP00000477910.1:n.648+17C>T
ENST00000617875.4:c.3393+26C>T	ENSP00000482313.1:n.3393+26C>T
ENST00000621189.4:c.2322+26C>T	ENSP00000483145.1:n.2322+26C>T
NM_004260.3:c.3393+26C>T	NP_004251.3:n.3393+26C>T
XM_011517380.1:c.3468+26C>T	XP_011515682.1:n.3468+26C>T
XM_011517381.1:c.3372+26C>T	XP_011515683.1:n.3372+26C>T
XM_011517382.1:c.3276+26C>T	XP_011515684.1:n.3276+26C>T
XM_011517383.1:c.3270+26C>T	XP_011515685.1:n.3270+26C>T
XM_011517384.1:c.3195+26C>T	XP_011515686.1:n.3195+26C>T
XM_011517385.1:c.2331+26C>T	XP_011515687.1:n.2331+26C>T
XR_928366.1:n.3353-96C>T
XR_928367.1:n.3448+26C>T
XR_928368.1:n.3341+26C>T
XM_011517384.3:c.3195+26C>T	XP_011515686.1:n.3195+26C>T
XM_017013991.2:c.3584C>T	XP_016869480.1:p.Ser1195Leu
XM_017013992.2:c.3509C>T	XP_016869481.1:p.Ser1170Leu
XM_017013993.2:c.3494C>T	XP_016869482.1:p.Ser1165Leu
XM_017013994.2:c.3488C>T	XP_016869483.1:p.Ser1163Leu
XM_017013995.2:c.3419C>T	XP_016869484.1:p.Ser1140Leu
XM_017013996.2:c.3558+26C>T	XP_016869485.1:n.3558+26C>T
XM_017013997.2:c.3386C>T	XP_016869486.1:p.Ser1129Leu
XM_017013998.1:c.3483+26C>T	XP_016869487.1:n.3483+26C>T
XM_017013999.2:c.3296C>T	XP_016869488.1:p.Ser1099Leu
XM_017014000.1:c.2447C>T	XP_016869489.1:p.Ser816Leu
XM_017014001.2:c.2357C>T	XP_016869490.1:p.Ser786Leu
XR_001745626.2:n.3439-96C>T
XR_001745627.2:n.3534+26C>T
XR_001745628.2:n.3425+26C>T
XR_001745629.2:n.3288+26C>T
XR_001745630.2:n.3090+26C>T
NM_004260.4:c.3393+26C>T MANE Select	NP_004251.4:n.3393+26C>T