Canonical Allele Identifier: CA4949088
Gene: RECQL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1430623
ClinVar RCV Id: RCV001931541
dbSNP Id: rs374743591

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144516055C>A , CM000670.2:g.144516055C>A GRCh38
NC_000008.10:g.145741439C>A , CM000670.1:g.145741439C>A GRCh37
NC_000008.9:g.145712247C>A NCBI36
NG_016430.1:g.6772G>T
NG_033083.1:g.3091C>A
NG_016430.2:g.6772G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617875.6:c.1064G>T MANE Select ENSP00000482313.2:p.Arg355Leu
ENST00000524998.1:c.586G>T
ENST00000617875.4:c.1064G>T ENSP00000482313.1:p.Arg355Leu
ENST00000621189.4:c.-8G>T ENSP00000483145.1:n.-8G>T
NM_004260.3:c.1064G>T NP_004251.3:p.Arg355Leu
XM_011517380.1:c.1064G>T XP_011515682.1:p.Arg355Leu
XM_011517381.1:c.968G>T XP_011515683.1:p.Arg323Leu
XM_011517382.1:c.1064G>T XP_011515684.1:p.Arg355Leu
XM_011517383.1:c.1064G>T XP_011515685.1:p.Arg355Leu
XM_011517384.1:c.1064G>T XP_011515686.1:p.Arg355Leu
XM_011517385.1:c.-70G>T XP_011515687.1:n.-70G>T
XR_928366.1:n.1105G>T
XR_928367.1:n.1105G>T
XR_928368.1:n.1107G>T
XM_011517384.3:c.1064G>T XP_011515686.1:p.Arg355Leu
XM_017013991.2:c.1064G>T XP_016869480.1:p.Arg355Leu
XM_017013992.2:c.1064G>T XP_016869481.1:p.Arg355Leu
XM_017013993.2:c.1064G>T XP_016869482.1:p.Arg355Leu
XM_017013994.2:c.968G>T XP_016869483.1:p.Arg323Leu
XM_017013995.2:c.1064G>T XP_016869484.1:p.Arg355Leu
XM_017013996.2:c.1064G>T XP_016869485.1:p.Arg355Leu
XM_017013997.2:c.1064G>T XP_016869486.1:p.Arg355Leu
XM_017013998.1:c.1064G>T XP_016869487.1:p.Arg355Leu
XM_017013999.2:c.1064G>T XP_016869488.1:p.Arg355Leu
XM_017014000.1:c.-70G>T XP_016869489.1:n.-70G>T
XM_017014001.2:c.-70G>T XP_016869490.1:n.-70G>T
XR_001745626.2:n.1101G>T
XR_001745627.2:n.1101G>T
XR_001745628.2:n.1101G>T
XR_001745629.2:n.1101G>T
XR_001745630.2:n.1101G>T
NM_004260.4:c.1064G>T MANE Select NP_004251.4:p.Arg355Leu