Canonical Allele Identifier: CA463565987

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 2990407
• ClinVar RCV Id: RCV003845102
• gnomAD v4: 8-144512034-C-T
• MyVariant Identifiers: chr8:g.145737417C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144512034C>T , CM000670.2:g.144512034C>T	GRCh38
NC_000008.10:g.145737417C>T , CM000670.1:g.145737417C>T	GRCh37
NC_000008.9:g.145708225C>T	NCBI36
NG_016430.1:g.10793G>A
NG_016430.2:g.10793G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3270G>A MANE Select	ENSP00000482313.2:p.Glu1090=
ENST00000301323.7:c.287G>A
ENST00000529424.2:n.50-245G>A
ENST00000531875.2:c.516G>A	ENSP00000477910.1:p.Glu172=
ENST00000617875.4:c.3270G>A	ENSP00000482313.1:p.Glu1090=
ENST00000621189.4:c.2199G>A	ENSP00000483145.1:p.Glu733=
NM_004260.3:c.3270G>A	NP_004251.3:p.Glu1090=
XM_011517380.1:c.3345G>A	XP_011515682.1:p.Glu1115=
XM_011517381.1:c.3249G>A	XP_011515683.1:p.Glu1083=
XM_011517382.1:c.3153G>A	XP_011515684.1:p.Glu1051=
XM_011517383.1:c.3147G>A	XP_011515685.1:p.Glu1049=
XM_011517384.1:c.3072G>A	XP_011515686.1:p.Glu1024=
XM_011517385.1:c.2208G>A	XP_011515687.1:p.Glu736=
XR_928366.1:n.3352+110G>A
XR_928367.1:n.3325G>A
XR_928368.1:n.3218G>A
XM_011517384.3:c.3072G>A	XP_011515686.1:p.Glu1024=
XM_017013991.2:c.3435G>A	XP_016869480.1:p.Glu1145=
XM_017013992.2:c.3360G>A	XP_016869481.1:p.Glu1120=
XM_017013993.2:c.3345G>A	XP_016869482.1:p.Glu1115=
XM_017013994.2:c.3339G>A	XP_016869483.1:p.Glu1113=
XM_017013995.2:c.3270G>A	XP_016869484.1:p.Glu1090=
XM_017013996.2:c.3435G>A	XP_016869485.1:p.Glu1145=
XM_017013997.2:c.3237G>A	XP_016869486.1:p.Glu1079=
XM_017013998.1:c.3360G>A	XP_016869487.1:p.Glu1120=
XM_017013999.2:c.3147G>A	XP_016869488.1:p.Glu1049=
XM_017014000.1:c.2298G>A	XP_016869489.1:p.Glu766=
XM_017014001.2:c.2208G>A	XP_016869490.1:p.Glu736=
XR_001745626.2:n.3438+110G>A
XR_001745627.2:n.3411G>A
XR_001745628.2:n.3302G>A
XR_001745629.2:n.3165G>A
XR_001745630.2:n.2967G>A
NM_004260.4:c.3270G>A MANE Select	NP_004251.4:p.Glu1090=