Canonical Allele Identifier: CA372667972

Gene: RECQL4

Linked Data

• MyVariant Identifiers: chr8:g.145737302G>C (hg19) ; chr8:g.144511919G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511919G>C , CM000670.2:g.144511919G>C	GRCh38
NC_000008.10:g.145737302G>C , CM000670.1:g.145737302G>C	GRCh37
NC_000008.9:g.145708110G>C	NCBI36
NG_016430.1:g.10908C>G
NG_016430.2:g.10908C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3385C>G MANE Select	ENSP00000482313.2:p.Gln1129Glu
ENST00000301323.7:c.402C>G
ENST00000529424.2:n.50-130C>G
ENST00000531875.2:c.631C>G	ENSP00000477910.1:p.Gln211Glu
ENST00000617875.4:c.3385C>G	ENSP00000482313.1:p.Gln1129Glu
ENST00000621189.4:c.2314C>G	ENSP00000483145.1:p.Gln772Glu
NM_004260.3:c.3385C>G	NP_004251.3:p.Gln1129Glu
XM_011517380.1:c.3460C>G	XP_011515682.1:p.Gln1154Glu
XM_011517381.1:c.3364C>G	XP_011515683.1:p.Gln1122Glu
XM_011517382.1:c.3268C>G	XP_011515684.1:p.Gln1090Glu
XM_011517383.1:c.3262C>G	XP_011515685.1:p.Gln1088Glu
XM_011517384.1:c.3187C>G	XP_011515686.1:p.Gln1063Glu
XM_011517385.1:c.2323C>G	XP_011515687.1:p.Gln775Glu
XR_928366.1:n.3353-130C>G
XR_928367.1:n.3440C>G
XR_928368.1:n.3333C>G
XM_011517384.3:c.3187C>G	XP_011515686.1:p.Gln1063Glu
XM_017013991.2:c.3550C>G	XP_016869480.1:p.Gln1184Glu
XM_017013992.2:c.3475C>G	XP_016869481.1:p.Gln1159Glu
XM_017013993.2:c.3460C>G	XP_016869482.1:p.Gln1154Glu
XM_017013994.2:c.3454C>G	XP_016869483.1:p.Gln1152Glu
XM_017013995.2:c.3385C>G	XP_016869484.1:p.Gln1129Glu
XM_017013996.2:c.3550C>G	XP_016869485.1:p.Gln1184Glu
XM_017013997.2:c.3352C>G	XP_016869486.1:p.Gln1118Glu
XM_017013998.1:c.3475C>G	XP_016869487.1:p.Gln1159Glu
XM_017013999.2:c.3262C>G	XP_016869488.1:p.Gln1088Glu
XM_017014000.1:c.2413C>G	XP_016869489.1:p.Gln805Glu
XM_017014001.2:c.2323C>G	XP_016869490.1:p.Gln775Glu
XR_001745626.2:n.3439-130C>G
XR_001745627.2:n.3526C>G
XR_001745628.2:n.3417C>G
XR_001745629.2:n.3280C>G
XR_001745630.2:n.3082C>G
NM_004260.4:c.3385C>G MANE Select	NP_004251.4:p.Gln1129Glu