Canonical Allele Identifier: CA4949064
Gene: RECQL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 406904
dbSNP Id: rs370125881

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144516002G>A , CM000670.2:g.144516002G>A GRCh38
NC_000008.10:g.145741386G>A , CM000670.1:g.145741386G>A GRCh37
NC_000008.9:g.145712194G>A NCBI36
NG_016430.1:g.6825C>T
NG_033083.1:g.3038G>A
NG_016430.2:g.6825C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617875.6:c.1117C>T MANE Select ENSP00000482313.2:p.Leu373Phe
ENST00000524998.1:c.639C>T
ENST00000532846.2:c.2C>T
ENST00000617875.4:c.1117C>T ENSP00000482313.1:p.Leu373Phe
ENST00000621189.4:c.46C>T ENSP00000483145.1:p.Leu16Phe
NM_004260.3:c.1117C>T NP_004251.3:p.Leu373Phe
XM_011517380.1:c.1117C>T XP_011515682.1:p.Leu373Phe
XM_011517381.1:c.1021C>T XP_011515683.1:p.Leu341Phe
XM_011517382.1:c.1117C>T XP_011515684.1:p.Leu373Phe
XM_011517383.1:c.1117C>T XP_011515685.1:p.Leu373Phe
XM_011517384.1:c.1117C>T XP_011515686.1:p.Leu373Phe
XM_011517385.1:c.-17C>T XP_011515687.1:n.-17C>T
XR_928366.1:n.1158C>T
XR_928367.1:n.1158C>T
XR_928368.1:n.1160C>T
XM_011517384.3:c.1117C>T XP_011515686.1:p.Leu373Phe
XM_017013991.2:c.1117C>T XP_016869480.1:p.Leu373Phe
XM_017013992.2:c.1117C>T XP_016869481.1:p.Leu373Phe
XM_017013993.2:c.1117C>T XP_016869482.1:p.Leu373Phe
XM_017013994.2:c.1021C>T XP_016869483.1:p.Leu341Phe
XM_017013995.2:c.1117C>T XP_016869484.1:p.Leu373Phe
XM_017013996.2:c.1117C>T XP_016869485.1:p.Leu373Phe
XM_017013997.2:c.1117C>T XP_016869486.1:p.Leu373Phe
XM_017013998.1:c.1117C>T XP_016869487.1:p.Leu373Phe
XM_017013999.2:c.1117C>T XP_016869488.1:p.Leu373Phe
XM_017014000.1:c.-17C>T XP_016869489.1:n.-17C>T
XM_017014001.2:c.-17C>T XP_016869490.1:n.-17C>T
XR_001745626.2:n.1154C>T
XR_001745627.2:n.1154C>T
XR_001745628.2:n.1154C>T
XR_001745629.2:n.1154C>T
XR_001745630.2:n.1154C>T
NM_004260.4:c.1117C>T MANE Select NP_004251.4:p.Leu373Phe