Canonical Allele Identifier: CA4948854

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 407028
• ClinVar RCV Id: RCV000458412
• dbSNP Id: rs768311526
• ExAC: 8:145740561 C / G
• gnomAD v3: 8-144515177-C-G
• gnomAD v4: 8-144515177-C-G
• MyVariant Identifiers: chr8:g.145740561C>G (hg19) ; chr8:g.144515177C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515177C>G , CM000670.2:g.144515177C>G	GRCh38
NC_000008.10:g.145740561C>G , CM000670.1:g.145740561C>G	GRCh37
NC_000008.9:g.145711369C>G	NCBI36
NG_016430.1:g.7650G>C
NG_033083.1:g.2213C>G
NG_016430.2:g.7650G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.479G>C
ENST00000617875.6:c.1456G>C MANE Select	ENSP00000482313.2:p.Glu486Gln
ENST00000532846.2:c.341G>C
ENST00000617875.4:c.1456G>C	ENSP00000482313.1:p.Glu486Gln
ENST00000621189.4:c.385G>C	ENSP00000483145.1:p.Glu129Gln
NM_004260.3:c.1456G>C	NP_004251.3:p.Glu486Gln
XM_011517380.1:c.1456G>C	XP_011515682.1:p.Glu486Gln
XM_011517381.1:c.1360G>C	XP_011515683.1:p.Glu454Gln
XM_011517382.1:c.1456G>C	XP_011515684.1:p.Glu486Gln
XM_011517383.1:c.1456G>C	XP_011515685.1:p.Glu486Gln
XM_011517384.1:c.1456G>C	XP_011515686.1:p.Glu486Gln
XM_011517385.1:c.319G>C	XP_011515687.1:p.Glu107Gln
XR_928366.1:n.1497G>C
XR_928367.1:n.1497G>C
XR_928368.1:n.1499G>C
XM_011517384.3:c.1456G>C	XP_011515686.1:p.Glu486Gln
XM_017013991.2:c.1456G>C	XP_016869480.1:p.Glu486Gln
XM_017013992.2:c.1456G>C	XP_016869481.1:p.Glu486Gln
XM_017013993.2:c.1456G>C	XP_016869482.1:p.Glu486Gln
XM_017013994.2:c.1360G>C	XP_016869483.1:p.Glu454Gln
XM_017013995.2:c.1456G>C	XP_016869484.1:p.Glu486Gln
XM_017013996.2:c.1456G>C	XP_016869485.1:p.Glu486Gln
XM_017013997.2:c.1456G>C	XP_016869486.1:p.Glu486Gln
XM_017013998.1:c.1456G>C	XP_016869487.1:p.Glu486Gln
XM_017013999.2:c.1456G>C	XP_016869488.1:p.Glu486Gln
XM_017014000.1:c.319G>C	XP_016869489.1:p.Glu107Gln
XM_017014001.2:c.319G>C	XP_016869490.1:p.Glu107Gln
XR_001745626.2:n.1493G>C
XR_001745627.2:n.1493G>C
XR_001745628.2:n.1493G>C
XR_001745629.2:n.1493G>C
XR_001745630.2:n.1493G>C
NM_004260.4:c.1456G>C MANE Select	NP_004251.4:p.Glu486Gln