Canonical Allele Identifier: CA372685222

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 225453
• ClinVar RCV Id: RCV000490255
• dbSNP Id: rs1085307090
• MyVariant Identifiers: chr8:g.145740709C>A (hg19) ; chr8:g.144515325C>A (hg38)
• PubMed: PMID:10678659 ; PMID:12734318

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515325C>A , CM000670.2:g.144515325C>A	GRCh38
NC_000008.10:g.145740709C>A , CM000670.1:g.145740709C>A	GRCh37
NC_000008.9:g.145711517C>A	NCBI36
NG_016430.1:g.7502G>T
NG_033083.1:g.2361C>A
NG_016430.2:g.7502G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.413+1G>T
ENST00000617875.6:c.1390+1G>T MANE Select	ENSP00000482313.2:n.1390+1G>T
ENST00000532846.2:c.275+1G>T
ENST00000617875.4:c.1390+1G>T	ENSP00000482313.1:n.1390+1G>T
ENST00000621189.4:c.319+1G>T	ENSP00000483145.1:n.319+1G>T
NM_004260.3:c.1390+1G>T	NP_004251.3:n.1390+1G>T
XM_011517380.1:c.1390+1G>T	XP_011515682.1:n.1390+1G>T
XM_011517381.1:c.1294+1G>T	XP_011515683.1:n.1294+1G>T
XM_011517382.1:c.1390+1G>T	XP_011515684.1:n.1390+1G>T
XM_011517383.1:c.1390+1G>T	XP_011515685.1:n.1390+1G>T
XM_011517384.1:c.1390+1G>T	XP_011515686.1:n.1390+1G>T
XM_011517385.1:c.253+1G>T	XP_011515687.1:n.253+1G>T
XR_928366.1:n.1431+1G>T
XR_928367.1:n.1431+1G>T
XR_928368.1:n.1433+1G>T
XM_011517384.3:c.1390+1G>T	XP_011515686.1:n.1390+1G>T
XM_017013991.2:c.1390+1G>T	XP_016869480.1:n.1390+1G>T
XM_017013992.2:c.1390+1G>T	XP_016869481.1:n.1390+1G>T
XM_017013993.2:c.1390+1G>T	XP_016869482.1:n.1390+1G>T
XM_017013994.2:c.1294+1G>T	XP_016869483.1:n.1294+1G>T
XM_017013995.2:c.1390+1G>T	XP_016869484.1:n.1390+1G>T
XM_017013996.2:c.1390+1G>T	XP_016869485.1:n.1390+1G>T
XM_017013997.2:c.1390+1G>T	XP_016869486.1:n.1390+1G>T
XM_017013998.1:c.1390+1G>T	XP_016869487.1:n.1390+1G>T
XM_017013999.2:c.1390+1G>T	XP_016869488.1:n.1390+1G>T
XM_017014000.1:c.253+1G>T	XP_016869489.1:n.253+1G>T
XM_017014001.2:c.253+1G>T	XP_016869490.1:n.253+1G>T
XR_001745626.2:n.1427+1G>T
XR_001745627.2:n.1427+1G>T
XR_001745628.2:n.1427+1G>T
XR_001745629.2:n.1427+1G>T
XR_001745630.2:n.1427+1G>T
NM_004260.4:c.1390+1G>T MANE Select	NP_004251.4:n.1390+1G>T