Canonical Allele Identifier: CA4949150

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 1127815
• ClinVar RCV Id: RCV001460341
• dbSNP Id: rs775962155
• ExAC: 8:145741603 C / T
• gnomAD v2: 8-145741603-C-T
• gnomAD v3: 8-144516219-C-T
• gnomAD v4: 8-144516219-C-T
• MyVariant Identifiers: chr8:g.145741603C>T (hg19) ; chr8:g.144516219C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144516219C>T , CM000670.2:g.144516219C>T	GRCh38
NC_000008.10:g.145741603C>T , CM000670.1:g.145741603C>T	GRCh37
NC_000008.9:g.145712411C>T	NCBI36
NG_016430.1:g.6608G>A
NG_033083.1:g.3255C>T
NG_016430.2:g.6608G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000617875.6:c.900G>A MANE Select	ENSP00000482313.2:p.Gly300=
ENST00000524998.1:c.422G>A
ENST00000617875.4:c.900G>A	ENSP00000482313.1:p.Gly300=
ENST00000621189.4:c.-172G>A	ENSP00000483145.1:n.-172G>A
NM_004260.3:c.900G>A	NP_004251.3:p.Gly300=
XM_011517380.1:c.900G>A	XP_011515682.1:p.Gly300=
XM_011517381.1:c.900G>A	XP_011515683.1:p.Gly300=
XM_011517382.1:c.900G>A	XP_011515684.1:p.Gly300=
XM_011517383.1:c.900G>A	XP_011515685.1:p.Gly300=
XM_011517384.1:c.900G>A	XP_011515686.1:p.Gly300=
XR_928366.1:n.941G>A
XR_928367.1:n.941G>A
XR_928368.1:n.943G>A
XM_011517384.3:c.900G>A	XP_011515686.1:p.Gly300=
XM_017013991.2:c.900G>A	XP_016869480.1:p.Gly300=
XM_017013992.2:c.900G>A	XP_016869481.1:p.Gly300=
XM_017013993.2:c.900G>A	XP_016869482.1:p.Gly300=
XM_017013994.2:c.900G>A	XP_016869483.1:p.Gly300=
XM_017013995.2:c.900G>A	XP_016869484.1:p.Gly300=
XM_017013996.2:c.900G>A	XP_016869485.1:p.Gly300=
XM_017013997.2:c.900G>A	XP_016869486.1:p.Gly300=
XM_017013998.1:c.900G>A	XP_016869487.1:p.Gly300=
XM_017013999.2:c.900G>A	XP_016869488.1:p.Gly300=
XM_017014001.2:c.-234G>A	XP_016869490.1:n.-234G>A
XR_001745626.2:n.937G>A
XR_001745627.2:n.937G>A
XR_001745628.2:n.937G>A
XR_001745629.2:n.937G>A
XR_001745630.2:n.937G>A
NM_004260.4:c.900G>A MANE Select	NP_004251.4:p.Gly300=