Canonical Allele Identifier: CA161871
Gene: RECQL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 135157
dbSNP Id: rs35198096

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144517466T>C , CM000670.2:g.144517466T>C GRCh38
NC_000008.10:g.145742850T>C , CM000670.1:g.145742850T>C GRCh37
NC_000008.9:g.145713658T>C NCBI36
NG_016430.1:g.5361A>G
NG_033083.1:g.4502T>C
NG_016430.2:g.5361A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617875.6:c.161A>G MANE Select ENSP00000482313.2:p.Gln54Arg
ENST00000524998.1:c.34A>G
ENST00000534270.1:n.107A>G
ENST00000534538.1:c.115A>G
ENST00000617875.4:c.161A>G ENSP00000482313.1:p.Gln54Arg
ENST00000621189.4:c.-911A>G ENSP00000483145.1:n.-911A>G
NM_004260.3:c.161A>G NP_004251.3:p.Gln54Arg
XM_011517380.1:c.161A>G XP_011515682.1:p.Gln54Arg
XM_011517381.1:c.161A>G XP_011515683.1:p.Gln54Arg
XM_011517382.1:c.161A>G XP_011515684.1:p.Gln54Arg
XM_011517383.1:c.161A>G XP_011515685.1:p.Gln54Arg
XM_011517384.1:c.161A>G XP_011515686.1:p.Gln54Arg
XR_928366.1:n.202A>G
XR_928367.1:n.202A>G
XR_928368.1:n.204A>G
XM_011517384.3:c.161A>G XP_011515686.1:p.Gln54Arg
XM_017013991.2:c.161A>G XP_016869480.1:p.Gln54Arg
XM_017013992.2:c.161A>G XP_016869481.1:p.Gln54Arg
XM_017013993.2:c.161A>G XP_016869482.1:p.Gln54Arg
XM_017013994.2:c.161A>G XP_016869483.1:p.Gln54Arg
XM_017013995.2:c.161A>G XP_016869484.1:p.Gln54Arg
XM_017013996.2:c.161A>G XP_016869485.1:p.Gln54Arg
XM_017013997.2:c.161A>G XP_016869486.1:p.Gln54Arg
XM_017013998.1:c.161A>G XP_016869487.1:p.Gln54Arg
XM_017013999.2:c.161A>G XP_016869488.1:p.Gln54Arg
XM_017014001.2:c.-973A>G XP_016869490.1:n.-973A>G
XR_001745626.2:n.198A>G
XR_001745627.2:n.198A>G
XR_001745628.2:n.198A>G
XR_001745629.2:n.198A>G
XR_001745630.2:n.198A>G
NM_004260.4:c.161A>G MANE Select NP_004251.4:p.Gln54Arg