Canonical Allele Identifier: CA372689231

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 1369766
• ClinVar RCV Id: RCV001870802
• dbSNP Id: rs1430320264
• gnomAD v2: 8-145741714-T-G
• MyVariant Identifiers: chr8:g.145741714T>G (hg19) ; chr8:g.144516330T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144516330T>G , CM000670.2:g.144516330T>G	GRCh38
NC_000008.10:g.145741714T>G , CM000670.1:g.145741714T>G	GRCh37
NC_000008.9:g.145712522T>G	NCBI36
NG_016430.1:g.6497A>C
NG_033083.1:g.3366T>G
NG_016430.2:g.6497A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.789A>C MANE Select	ENSP00000482313.2:p.Arg263Ser
ENST00000524998.1:c.311A>C
ENST00000534538.1:c.640A>C
ENST00000617875.4:c.789A>C	ENSP00000482313.1:p.Arg263Ser
ENST00000621189.4:c.-283A>C	ENSP00000483145.1:n.-283A>C
NM_004260.3:c.789A>C	NP_004251.3:p.Arg263Ser
XM_011517380.1:c.789A>C	XP_011515682.1:p.Arg263Ser
XM_011517381.1:c.789A>C	XP_011515683.1:p.Arg263Ser
XM_011517382.1:c.789A>C	XP_011515684.1:p.Arg263Ser
XM_011517383.1:c.789A>C	XP_011515685.1:p.Arg263Ser
XM_011517384.1:c.789A>C	XP_011515686.1:p.Arg263Ser
XR_928366.1:n.830A>C
XR_928367.1:n.830A>C
XR_928368.1:n.832A>C
XM_011517384.3:c.789A>C	XP_011515686.1:p.Arg263Ser
XM_017013991.2:c.789A>C	XP_016869480.1:p.Arg263Ser
XM_017013992.2:c.789A>C	XP_016869481.1:p.Arg263Ser
XM_017013993.2:c.789A>C	XP_016869482.1:p.Arg263Ser
XM_017013994.2:c.789A>C	XP_016869483.1:p.Arg263Ser
XM_017013995.2:c.789A>C	XP_016869484.1:p.Arg263Ser
XM_017013996.2:c.789A>C	XP_016869485.1:p.Arg263Ser
XM_017013997.2:c.789A>C	XP_016869486.1:p.Arg263Ser
XM_017013998.1:c.789A>C	XP_016869487.1:p.Arg263Ser
XM_017013999.2:c.789A>C	XP_016869488.1:p.Arg263Ser
XM_017014001.2:c.-345A>C	XP_016869490.1:n.-345A>C
XR_001745626.2:n.826A>C
XR_001745627.2:n.826A>C
XR_001745628.2:n.826A>C
XR_001745629.2:n.826A>C
XR_001745630.2:n.826A>C
NM_004260.4:c.789A>C MANE Select	NP_004251.4:p.Arg263Ser