Canonical Allele Identifier: CA848891206

Gene: RECQL4

Linked Data

• dbSNP Id: rs35995510
• gnomAD v3: 8-144511827-C-A
• gnomAD v4: 8-144511827-C-A
• MyVariant Identifiers: chr8:g.145737210C>A (hg19) ; chr8:g.144511827C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511827C>A , CM000670.2:g.144511827C>A	GRCh38
NC_000008.10:g.145737210C>A , CM000670.1:g.145737210C>A	GRCh37
NC_000008.9:g.145708018C>A	NCBI36
NG_016430.1:g.11000G>T
NG_016430.2:g.11000G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3394-38G>T MANE Select	ENSP00000482313.2:n.3394-38G>T
ENST00000301323.7:c.411-38G>T
ENST00000529424.2:n.50-38G>T
ENST00000531875.2:c.649-38G>T	ENSP00000477910.1:n.649-38G>T
ENST00000617875.4:c.3394-38G>T	ENSP00000482313.1:n.3394-38G>T
ENST00000621189.4:c.2323-38G>T	ENSP00000483145.1:n.2323-38G>T
NM_004260.3:c.3394-38G>T	NP_004251.3:n.3394-38G>T
XM_011517380.1:c.3469-38G>T	XP_011515682.1:n.3469-38G>T
XM_011517381.1:c.3373-38G>T	XP_011515683.1:n.3373-38G>T
XM_011517382.1:c.3277-38G>T	XP_011515684.1:n.3277-38G>T
XM_011517383.1:c.3271-38G>T	XP_011515685.1:n.3271-38G>T
XM_011517384.1:c.3196-38G>T	XP_011515686.1:n.3196-38G>T
XM_011517385.1:c.2332-38G>T	XP_011515687.1:n.2332-38G>T
XR_928366.1:n.3353-38G>T
XR_928367.1:n.3449-38G>T
XR_928368.1:n.3342-38G>T
XM_011517384.3:c.3196-38G>T	XP_011515686.1:n.3196-38G>T
XM_017013991.2:c.3642G>T	XP_016869480.1:p.Thr1214=
XM_017013992.2:c.3567G>T	XP_016869481.1:p.Thr1189=
XM_017013993.2:c.3552G>T	XP_016869482.1:p.Thr1184=
XM_017013994.2:c.3546G>T	XP_016869483.1:p.Thr1182=
XM_017013995.2:c.3477G>T	XP_016869484.1:p.Thr1159=
XM_017013996.2:c.3559-38G>T	XP_016869485.1:n.3559-38G>T
XM_017013997.2:c.3444G>T	XP_016869486.1:p.Thr1148=
XM_017013998.1:c.3484-38G>T	XP_016869487.1:n.3484-38G>T
XM_017013999.2:c.3354G>T	XP_016869488.1:p.Thr1118=
XM_017014000.1:c.2505G>T	XP_016869489.1:p.Thr835=
XM_017014001.2:c.2415G>T	XP_016869490.1:p.Thr805=
XR_001745626.2:n.3439-38G>T
XR_001745627.2:n.3535-38G>T
XR_001745628.2:n.3426-38G>T
XR_001745629.2:n.3289-38G>T
XR_001745630.2:n.3091-38G>T
NM_004260.4:c.3394-38G>T MANE Select	NP_004251.4:n.3394-38G>T