Canonical Allele Identifier: CA147881

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 94885
• ClinVar RCV Id: RCV000080885 ; RCV001520361 ; RCV000834331 ; RCV001795114 ; RCV001795113
• dbSNP Id: rs2306386
• ExAC: 8:145742879 T / C
• gnomAD v2: 8-145742879-T-C
• gnomAD v3: 8-144517495-T-C
• gnomAD v4: 8-144517495-T-C
• MyVariant Identifiers: chr8:g.145742879T>C (hg19) ; chr8:g.144517495T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144517495T>C , CM000670.2:g.144517495T>C	GRCh38
NC_000008.10:g.145742879T>C , CM000670.1:g.145742879T>C	GRCh37
NC_000008.9:g.145713687T>C	NCBI36
NG_016430.1:g.5332A>G
NG_033083.1:g.4531T>C
NG_016430.2:g.5332A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.132A>G MANE Select	ENSP00000482313.2:p.Glu44=
ENST00000524998.1:c.5A>G
ENST00000534270.1:n.78A>G
ENST00000534538.1:c.86A>G
ENST00000617875.4:c.132A>G	ENSP00000482313.1:p.Glu44=
ENST00000621189.4:c.-940A>G	ENSP00000483145.1:n.-940A>G
NM_004260.3:c.132A>G	NP_004251.3:p.Glu44=
XM_011517380.1:c.132A>G	XP_011515682.1:p.Glu44=
XM_011517381.1:c.132A>G	XP_011515683.1:p.Glu44=
XM_011517382.1:c.132A>G	XP_011515684.1:p.Glu44=
XM_011517383.1:c.132A>G	XP_011515685.1:p.Glu44=
XM_011517384.1:c.132A>G	XP_011515686.1:p.Glu44=
XR_928366.1:n.173A>G
XR_928367.1:n.173A>G
XR_928368.1:n.175A>G
XM_011517384.3:c.132A>G	XP_011515686.1:p.Glu44=
XM_017013991.2:c.132A>G	XP_016869480.1:p.Glu44=
XM_017013992.2:c.132A>G	XP_016869481.1:p.Glu44=
XM_017013993.2:c.132A>G	XP_016869482.1:p.Glu44=
XM_017013994.2:c.132A>G	XP_016869483.1:p.Glu44=
XM_017013995.2:c.132A>G	XP_016869484.1:p.Glu44=
XM_017013996.2:c.132A>G	XP_016869485.1:p.Glu44=
XM_017013997.2:c.132A>G	XP_016869486.1:p.Glu44=
XM_017013998.1:c.132A>G	XP_016869487.1:p.Glu44=
XM_017013999.2:c.132A>G	XP_016869488.1:p.Glu44=
XM_017014001.2:c.-1002A>G	XP_016869490.1:n.-1002A>G
XR_001745626.2:n.169A>G
XR_001745627.2:n.169A>G
XR_001745628.2:n.169A>G
XR_001745629.2:n.169A>G
XR_001745630.2:n.169A>G
NM_004260.4:c.132A>G MANE Select	NP_004251.4:p.Glu44=