Canonical Allele Identifier: CA372688248

Gene: RECQL4

Linked Data

• MyVariant Identifiers: chr8:g.145741469A>C (hg19) ; chr8:g.144516085A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144516085A>C , CM000670.2:g.144516085A>C	GRCh38
NC_000008.10:g.145741469A>C , CM000670.1:g.145741469A>C	GRCh37
NC_000008.9:g.145712277A>C	NCBI36
NG_016430.1:g.6742T>G
NG_033083.1:g.3121A>C
NG_016430.2:g.6742T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.1034T>G MANE Select	ENSP00000482313.2:p.Leu345Arg
ENST00000524998.1:c.556T>G
ENST00000617875.4:c.1034T>G	ENSP00000482313.1:p.Leu345Arg
ENST00000621189.4:c.-38T>G	ENSP00000483145.1:n.-38T>G
NM_004260.3:c.1034T>G	NP_004251.3:p.Leu345Arg
XM_011517380.1:c.1034T>G	XP_011515682.1:p.Leu345Arg
XM_011517381.1:c.954-16T>G	XP_011515683.1:n.954-16T>G
XM_011517382.1:c.1034T>G	XP_011515684.1:p.Leu345Arg
XM_011517383.1:c.1034T>G	XP_011515685.1:p.Leu345Arg
XM_011517384.1:c.1034T>G	XP_011515686.1:p.Leu345Arg
XR_928366.1:n.1075T>G
XR_928367.1:n.1075T>G
XR_928368.1:n.1077T>G
XM_011517384.3:c.1034T>G	XP_011515686.1:p.Leu345Arg
XM_017013991.2:c.1034T>G	XP_016869480.1:p.Leu345Arg
XM_017013992.2:c.1034T>G	XP_016869481.1:p.Leu345Arg
XM_017013993.2:c.1034T>G	XP_016869482.1:p.Leu345Arg
XM_017013994.2:c.954-16T>G	XP_016869483.1:n.954-16T>G
XM_017013995.2:c.1034T>G	XP_016869484.1:p.Leu345Arg
XM_017013996.2:c.1034T>G	XP_016869485.1:p.Leu345Arg
XM_017013997.2:c.1034T>G	XP_016869486.1:p.Leu345Arg
XM_017013998.1:c.1034T>G	XP_016869487.1:p.Leu345Arg
XM_017013999.2:c.1034T>G	XP_016869488.1:p.Leu345Arg
XM_017014001.2:c.-100T>G	XP_016869490.1:n.-100T>G
XR_001745626.2:n.1071T>G
XR_001745627.2:n.1071T>G
XR_001745628.2:n.1071T>G
XR_001745629.2:n.1071T>G
XR_001745630.2:n.1071T>G
NM_004260.4:c.1034T>G MANE Select	NP_004251.4:p.Leu345Arg