Canonical Allele Identifier: CA2689128921

Gene: RECQL4

Linked Data

• gnomAD v4: 8-144511874-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511874G>C , CM000670.2:g.144511874G>C	GRCh38
NC_000008.10:g.145737257G>C , CM000670.1:g.145737257G>C	GRCh37
NC_000008.9:g.145708065G>C	NCBI36
NG_016430.1:g.10953C>G
NG_016430.2:g.10953C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+37C>G MANE Select	ENSP00000482313.2:n.3393+37C>G
ENST00000301323.7:c.410+37C>G
ENST00000529424.2:n.50-85C>G
ENST00000531875.2:c.648+28C>G	ENSP00000477910.1:n.648+28C>G
ENST00000617875.4:c.3393+37C>G	ENSP00000482313.1:n.3393+37C>G
ENST00000621189.4:c.2322+37C>G	ENSP00000483145.1:n.2322+37C>G
NM_004260.3:c.3393+37C>G	NP_004251.3:n.3393+37C>G
XM_011517380.1:c.3468+37C>G	XP_011515682.1:n.3468+37C>G
XM_011517381.1:c.3372+37C>G	XP_011515683.1:n.3372+37C>G
XM_011517382.1:c.3276+37C>G	XP_011515684.1:n.3276+37C>G
XM_011517383.1:c.3270+37C>G	XP_011515685.1:n.3270+37C>G
XM_011517384.1:c.3195+37C>G	XP_011515686.1:n.3195+37C>G
XM_011517385.1:c.2331+37C>G	XP_011515687.1:n.2331+37C>G
XR_928366.1:n.3353-85C>G
XR_928367.1:n.3448+37C>G
XR_928368.1:n.3341+37C>G
XM_011517384.3:c.3195+37C>G	XP_011515686.1:n.3195+37C>G
XM_017013991.2:c.3595C>G	XP_016869480.1:p.Gln1199Glu
XM_017013992.2:c.3520C>G	XP_016869481.1:p.Gln1174Glu
XM_017013993.2:c.3505C>G	XP_016869482.1:p.Gln1169Glu
XM_017013994.2:c.3499C>G	XP_016869483.1:p.Gln1167Glu
XM_017013995.2:c.3430C>G	XP_016869484.1:p.Gln1144Glu
XM_017013996.2:c.3558+37C>G	XP_016869485.1:n.3558+37C>G
XM_017013997.2:c.3397C>G	XP_016869486.1:p.Gln1133Glu
XM_017013998.1:c.3483+37C>G	XP_016869487.1:n.3483+37C>G
XM_017013999.2:c.3307C>G	XP_016869488.1:p.Gln1103Glu
XM_017014000.1:c.2458C>G	XP_016869489.1:p.Gln820Glu
XM_017014001.2:c.2368C>G	XP_016869490.1:p.Gln790Glu
XR_001745626.2:n.3439-85C>G
XR_001745627.2:n.3534+37C>G
XR_001745628.2:n.3425+37C>G
XR_001745629.2:n.3288+37C>G
XR_001745630.2:n.3090+37C>G
NM_004260.4:c.3393+37C>G MANE Select	NP_004251.4:n.3393+37C>G