Canonical Allele Identifier: CA372668222

Gene: RECQL4

Linked Data

• MyVariant Identifiers: chr8:g.145737328T>C (hg19) ; chr8:g.144511945T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511945T>C , CM000670.2:g.144511945T>C	GRCh38
NC_000008.10:g.145737328T>C , CM000670.1:g.145737328T>C	GRCh37
NC_000008.9:g.145708136T>C	NCBI36
NG_016430.1:g.10882A>G
NG_016430.2:g.10882A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3359A>G MANE Select	ENSP00000482313.2:p.Glu1120Gly
ENST00000301323.7:c.376A>G
ENST00000529424.2:n.50-156A>G
ENST00000531875.2:c.605A>G	ENSP00000477910.1:p.Glu202Gly
ENST00000617875.4:c.3359A>G	ENSP00000482313.1:p.Glu1120Gly
ENST00000621189.4:c.2288A>G	ENSP00000483145.1:p.Glu763Gly
NM_004260.3:c.3359A>G	NP_004251.3:p.Glu1120Gly
XM_011517380.1:c.3434A>G	XP_011515682.1:p.Glu1145Gly
XM_011517381.1:c.3338A>G	XP_011515683.1:p.Glu1113Gly
XM_011517382.1:c.3242A>G	XP_011515684.1:p.Glu1081Gly
XM_011517383.1:c.3236A>G	XP_011515685.1:p.Glu1079Gly
XM_011517384.1:c.3161A>G	XP_011515686.1:p.Glu1054Gly
XM_011517385.1:c.2297A>G	XP_011515687.1:p.Glu766Gly
XR_928366.1:n.3353-156A>G
XR_928367.1:n.3414A>G
XR_928368.1:n.3307A>G
XM_011517384.3:c.3161A>G	XP_011515686.1:p.Glu1054Gly
XM_017013991.2:c.3524A>G	XP_016869480.1:p.Glu1175Gly
XM_017013992.2:c.3449A>G	XP_016869481.1:p.Glu1150Gly
XM_017013993.2:c.3434A>G	XP_016869482.1:p.Glu1145Gly
XM_017013994.2:c.3428A>G	XP_016869483.1:p.Glu1143Gly
XM_017013995.2:c.3359A>G	XP_016869484.1:p.Glu1120Gly
XM_017013996.2:c.3524A>G	XP_016869485.1:p.Glu1175Gly
XM_017013997.2:c.3326A>G	XP_016869486.1:p.Glu1109Gly
XM_017013998.1:c.3449A>G	XP_016869487.1:p.Glu1150Gly
XM_017013999.2:c.3236A>G	XP_016869488.1:p.Glu1079Gly
XM_017014000.1:c.2387A>G	XP_016869489.1:p.Glu796Gly
XM_017014001.2:c.2297A>G	XP_016869490.1:p.Glu766Gly
XR_001745626.2:n.3439-156A>G
XR_001745627.2:n.3500A>G
XR_001745628.2:n.3391A>G
XR_001745629.2:n.3254A>G
XR_001745630.2:n.3056A>G
NM_004260.4:c.3359A>G MANE Select	NP_004251.4:p.Glu1120Gly