Canonical Allele Identifier: CA372667950

Gene: RECQL4

Linked Data

• MyVariant Identifiers: chr8:g.145737301T>G (hg19) ; chr8:g.144511918T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511918T>G , CM000670.2:g.144511918T>G	GRCh38
NC_000008.10:g.145737301T>G , CM000670.1:g.145737301T>G	GRCh37
NC_000008.9:g.145708109T>G	NCBI36
NG_016430.1:g.10909A>C
NG_016430.2:g.10909A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3386A>C MANE Select	ENSP00000482313.2:p.Gln1129Pro
ENST00000301323.7:c.403A>C
ENST00000529424.2:n.50-129A>C
ENST00000531875.2:c.632A>C	ENSP00000477910.1:p.Gln211Pro
ENST00000617875.4:c.3386A>C	ENSP00000482313.1:p.Gln1129Pro
ENST00000621189.4:c.2315A>C	ENSP00000483145.1:p.Gln772Pro
NM_004260.3:c.3386A>C	NP_004251.3:p.Gln1129Pro
XM_011517380.1:c.3461A>C	XP_011515682.1:p.Gln1154Pro
XM_011517381.1:c.3365A>C	XP_011515683.1:p.Gln1122Pro
XM_011517382.1:c.3269A>C	XP_011515684.1:p.Gln1090Pro
XM_011517383.1:c.3263A>C	XP_011515685.1:p.Gln1088Pro
XM_011517384.1:c.3188A>C	XP_011515686.1:p.Gln1063Pro
XM_011517385.1:c.2324A>C	XP_011515687.1:p.Gln775Pro
XR_928366.1:n.3353-129A>C
XR_928367.1:n.3441A>C
XR_928368.1:n.3334A>C
XM_011517384.3:c.3188A>C	XP_011515686.1:p.Gln1063Pro
XM_017013991.2:c.3551A>C	XP_016869480.1:p.Gln1184Pro
XM_017013992.2:c.3476A>C	XP_016869481.1:p.Gln1159Pro
XM_017013993.2:c.3461A>C	XP_016869482.1:p.Gln1154Pro
XM_017013994.2:c.3455A>C	XP_016869483.1:p.Gln1152Pro
XM_017013995.2:c.3386A>C	XP_016869484.1:p.Gln1129Pro
XM_017013996.2:c.3551A>C	XP_016869485.1:p.Gln1184Pro
XM_017013997.2:c.3353A>C	XP_016869486.1:p.Gln1118Pro
XM_017013998.1:c.3476A>C	XP_016869487.1:p.Gln1159Pro
XM_017013999.2:c.3263A>C	XP_016869488.1:p.Gln1088Pro
XM_017014000.1:c.2414A>C	XP_016869489.1:p.Gln805Pro
XM_017014001.2:c.2324A>C	XP_016869490.1:p.Gln775Pro
XR_001745626.2:n.3439-129A>C
XR_001745627.2:n.3527A>C
XR_001745628.2:n.3418A>C
XR_001745629.2:n.3281A>C
XR_001745630.2:n.3083A>C
NM_004260.4:c.3386A>C MANE Select	NP_004251.4:p.Gln1129Pro