Canonical Allele Identifier: CA253754
Gene: RECQL4 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6067
ClinVar RCV Id: RCV000006439
dbSNP Id: rs117642173

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144515243C>T , CM000670.2:g.144515243C>T GRCh38
NC_000008.9:g.145711435C>T NCBI36
NC_000008.10:g.145740627C>T , CM000670.1:g.145740627C>T GRCh37
NG_016430.1:g.7584G>A
NG_033083.1:g.2279C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000532846.2:n.276-1G>A
ENST00000617875.4:c.1391-1G>A ENSP00000482313.1:p.=
ENST00000621189.4:c.320-1G>A ENSP00000483145.1:p.=
NM_004260.3:c.1391-1G>A VV NP_004251.3:p.=
XM_011517380.1:c.1391-1G>A XP_011515682.1:p.=
XM_011517381.1:c.1295-1G>A XP_011515683.1:p.=
XM_011517382.1:c.1391-1G>A XP_011515684.1:p.=
XM_011517383.1:c.1391-1G>A XP_011515685.1:p.=
XM_011517384.1:c.1391-1G>A XP_011515686.1:p.=
XM_011517385.1:c.254-1G>A XP_011515687.1:p.=
XR_928366.1:n.1432-1G>A
XR_928367.1:n.1432-1G>A
XR_928368.1:n.1434-1G>A
XM_011517384.3:c.1391-1G>A
XM_017013991.2:c.1391-1G>A XP_016869480.1:p.=
XM_017013992.2:c.1391-1G>A XP_016869481.1:p.=
XM_017013993.2:c.1391-1G>A XP_016869482.1:p.=
XM_017013994.2:c.1295-1G>A XP_016869483.1:p.=
XM_017013995.2:c.1391-1G>A XP_016869484.1:p.=
XM_017013996.2:c.1391-1G>A XP_016869485.1:p.=
XM_017013997.2:c.1391-1G>A XP_016869486.1:p.=
XM_017013998.1:c.1391-1G>A XP_016869487.1:p.=
XM_017013999.2:c.1391-1G>A XP_016869488.1:p.=
XM_017014000.1:c.254-1G>A XP_016869489.1:p.=
XM_017014001.2:c.254-1G>A XP_016869490.1:p.=
XR_001745626.2:n.1428-1G>A
XR_001745627.2:n.1428-1G>A
XR_001745628.2:n.1428-1G>A
XR_001745629.2:n.1428-1G>A
XR_001745630.2:n.1428-1G>A