Canonical Allele Identifier: CA2718528461

Gene: RECQL4

Linked Data

• dbSNP Id: rs1827269286

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511836G>C , CM000670.2:g.144511836G>C	GRCh38
NC_000008.10:g.145737219G>C , CM000670.1:g.145737219G>C	GRCh37
NC_000008.9:g.145708027G>C	NCBI36
NG_016430.1:g.10991C>G
NG_016430.2:g.10991C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3394-47C>G MANE Select	ENSP00000482313.2:n.3394-47C>G
ENST00000301323.7:c.411-47C>G
ENST00000529424.2:n.50-47C>G
ENST00000531875.2:c.649-47C>G	ENSP00000477910.1:n.649-47C>G
ENST00000617875.4:c.3394-47C>G	ENSP00000482313.1:n.3394-47C>G
ENST00000621189.4:c.2323-47C>G	ENSP00000483145.1:n.2323-47C>G
NM_004260.3:c.3394-47C>G	NP_004251.3:n.3394-47C>G
XM_011517380.1:c.3469-47C>G	XP_011515682.1:n.3469-47C>G
XM_011517381.1:c.3373-47C>G	XP_011515683.1:n.3373-47C>G
XM_011517382.1:c.3277-47C>G	XP_011515684.1:n.3277-47C>G
XM_011517383.1:c.3271-47C>G	XP_011515685.1:n.3271-47C>G
XM_011517384.1:c.3196-47C>G	XP_011515686.1:n.3196-47C>G
XM_011517385.1:c.2332-47C>G	XP_011515687.1:n.2332-47C>G
XR_928366.1:n.3353-47C>G
XR_928367.1:n.3449-47C>G
XR_928368.1:n.3342-47C>G
XM_011517384.3:c.3196-47C>G	XP_011515686.1:n.3196-47C>G
XM_017013991.2:c.3633C>G	XP_016869480.1:p.Cys1211Trp
XM_017013992.2:c.3558C>G	XP_016869481.1:p.Cys1186Trp
XM_017013993.2:c.3543C>G	XP_016869482.1:p.Cys1181Trp
XM_017013994.2:c.3537C>G	XP_016869483.1:p.Cys1179Trp
XM_017013995.2:c.3468C>G	XP_016869484.1:p.Cys1156Trp
XM_017013996.2:c.3559-47C>G	XP_016869485.1:n.3559-47C>G
XM_017013997.2:c.3435C>G	XP_016869486.1:p.Cys1145Trp
XM_017013998.1:c.3484-47C>G	XP_016869487.1:n.3484-47C>G
XM_017013999.2:c.3345C>G	XP_016869488.1:p.Cys1115Trp
XM_017014000.1:c.2496C>G	XP_016869489.1:p.Cys832Trp
XM_017014001.2:c.2406C>G	XP_016869490.1:p.Cys802Trp
XR_001745626.2:n.3439-47C>G
XR_001745627.2:n.3535-47C>G
XR_001745628.2:n.3426-47C>G
XR_001745629.2:n.3289-47C>G
XR_001745630.2:n.3091-47C>G
NM_004260.4:c.3394-47C>G MANE Select	NP_004251.4:n.3394-47C>G