Canonical Allele Identifier: CA372691395
Gene: RECQL4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1023758
ClinVar RCV Id: RCV001323856
dbSNP Id: rs1815075291

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.144516658T>C , CM000670.2:g.144516658T>C GRCh38
NC_000008.10:g.145742042T>C , CM000670.1:g.145742042T>C GRCh37
NC_000008.9:g.145712850T>C NCBI36
NG_016430.1:g.6169A>G
NG_033083.1:g.3694T>C
NG_016430.2:g.6169A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617875.6:c.461A>G MANE Select ENSP00000482313.2:p.Lys154Arg
ENST00000524998.1:c.228-245A>G
ENST00000534538.1:c.312A>G
ENST00000617875.4:c.461A>G ENSP00000482313.1:p.Lys154Arg
ENST00000621189.4:c.-611A>G ENSP00000483145.1:n.-611A>G
NM_004260.3:c.461A>G NP_004251.3:p.Lys154Arg
XM_011517380.1:c.461A>G XP_011515682.1:p.Lys154Arg
XM_011517381.1:c.461A>G XP_011515683.1:p.Lys154Arg
XM_011517382.1:c.461A>G XP_011515684.1:p.Lys154Arg
XM_011517383.1:c.461A>G XP_011515685.1:p.Lys154Arg
XM_011517384.1:c.461A>G XP_011515686.1:p.Lys154Arg
XR_928366.1:n.502A>G
XR_928367.1:n.502A>G
XR_928368.1:n.504A>G
XM_011517384.3:c.461A>G XP_011515686.1:p.Lys154Arg
XM_017013991.2:c.461A>G XP_016869480.1:p.Lys154Arg
XM_017013992.2:c.461A>G XP_016869481.1:p.Lys154Arg
XM_017013993.2:c.461A>G XP_016869482.1:p.Lys154Arg
XM_017013994.2:c.461A>G XP_016869483.1:p.Lys154Arg
XM_017013995.2:c.461A>G XP_016869484.1:p.Lys154Arg
XM_017013996.2:c.461A>G XP_016869485.1:p.Lys154Arg
XM_017013997.2:c.461A>G XP_016869486.1:p.Lys154Arg
XM_017013998.1:c.461A>G XP_016869487.1:p.Lys154Arg
XM_017013999.2:c.461A>G XP_016869488.1:p.Lys154Arg
XM_017014001.2:c.-673A>G XP_016869490.1:n.-673A>G
XR_001745626.2:n.498A>G
XR_001745627.2:n.498A>G
XR_001745628.2:n.498A>G
XR_001745629.2:n.498A>G
XR_001745630.2:n.498A>G
NM_004260.4:c.461A>G MANE Select NP_004251.4:p.Lys154Arg