Canonical Allele Identifier: CA372689525

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 1063236
• ClinVar RCV Id: RCV001373056
• dbSNP Id: rs1815000155
• MyVariant Identifiers: chr8:g.145741782C>G (hg19) ; chr8:g.144516398C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144516398C>G , CM000670.2:g.144516398C>G	GRCh38
NC_000008.10:g.145741782C>G , CM000670.1:g.145741782C>G	GRCh37
NC_000008.9:g.145712590C>G	NCBI36
NG_016430.1:g.6429G>C
NG_033083.1:g.3434C>G
NG_016430.2:g.6429G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.721G>C MANE Select	ENSP00000482313.2:p.Ala241Pro
ENST00000524998.1:c.243G>C
ENST00000534538.1:c.572G>C
ENST00000617875.4:c.721G>C	ENSP00000482313.1:p.Ala241Pro
ENST00000621189.4:c.-351G>C	ENSP00000483145.1:n.-351G>C
NM_004260.3:c.721G>C	NP_004251.3:p.Ala241Pro
XM_011517380.1:c.721G>C	XP_011515682.1:p.Ala241Pro
XM_011517381.1:c.721G>C	XP_011515683.1:p.Ala241Pro
XM_011517382.1:c.721G>C	XP_011515684.1:p.Ala241Pro
XM_011517383.1:c.721G>C	XP_011515685.1:p.Ala241Pro
XM_011517384.1:c.721G>C	XP_011515686.1:p.Ala241Pro
XR_928366.1:n.762G>C
XR_928367.1:n.762G>C
XR_928368.1:n.764G>C
XM_011517384.3:c.721G>C	XP_011515686.1:p.Ala241Pro
XM_017013991.2:c.721G>C	XP_016869480.1:p.Ala241Pro
XM_017013992.2:c.721G>C	XP_016869481.1:p.Ala241Pro
XM_017013993.2:c.721G>C	XP_016869482.1:p.Ala241Pro
XM_017013994.2:c.721G>C	XP_016869483.1:p.Ala241Pro
XM_017013995.2:c.721G>C	XP_016869484.1:p.Ala241Pro
XM_017013996.2:c.721G>C	XP_016869485.1:p.Ala241Pro
XM_017013997.2:c.721G>C	XP_016869486.1:p.Ala241Pro
XM_017013998.1:c.721G>C	XP_016869487.1:p.Ala241Pro
XM_017013999.2:c.721G>C	XP_016869488.1:p.Ala241Pro
XM_017014001.2:c.-413G>C	XP_016869490.1:n.-413G>C
XR_001745626.2:n.758G>C
XR_001745627.2:n.758G>C
XR_001745628.2:n.758G>C
XR_001745629.2:n.758G>C
XR_001745630.2:n.758G>C
NM_004260.4:c.721G>C MANE Select	NP_004251.4:p.Ala241Pro