Canonical Allele Identifier: CA372667838

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 2140526
• ClinVar RCV Id: RCV003060135
• dbSNP Id: rs1244284657
• gnomAD v2: 8-145737290-T-A
• gnomAD v3: 8-144511907-T-A
• gnomAD v4: 8-144511907-T-A
• MyVariant Identifiers: chr8:g.145737290T>A (hg19) ; chr8:g.144511907T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511907T>A , CM000670.2:g.144511907T>A	GRCh38
NC_000008.10:g.145737290T>A , CM000670.1:g.145737290T>A	GRCh37
NC_000008.9:g.145708098T>A	NCBI36
NG_016430.1:g.10920A>T
NG_016430.2:g.10920A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+4A>T MANE Select	ENSP00000482313.2:n.3393+4A>T
ENST00000301323.7:c.410+4A>T
ENST00000529424.2:n.50-118A>T
ENST00000531875.2:c.643A>T	ENSP00000477910.1:p.Ser215Cys
ENST00000617875.4:c.3393+4A>T	ENSP00000482313.1:n.3393+4A>T
ENST00000621189.4:c.2322+4A>T	ENSP00000483145.1:n.2322+4A>T
NM_004260.3:c.3393+4A>T	NP_004251.3:n.3393+4A>T
XM_011517380.1:c.3468+4A>T	XP_011515682.1:n.3468+4A>T
XM_011517381.1:c.3372+4A>T	XP_011515683.1:n.3372+4A>T
XM_011517382.1:c.3276+4A>T	XP_011515684.1:n.3276+4A>T
XM_011517383.1:c.3270+4A>T	XP_011515685.1:n.3270+4A>T
XM_011517384.1:c.3195+4A>T	XP_011515686.1:n.3195+4A>T
XM_011517385.1:c.2331+4A>T	XP_011515687.1:n.2331+4A>T
XR_928366.1:n.3353-118A>T
XR_928367.1:n.3448+4A>T
XR_928368.1:n.3341+4A>T
XM_011517384.3:c.3195+4A>T	XP_011515686.1:n.3195+4A>T
XM_017013991.2:c.3562A>T	XP_016869480.1:p.Ser1188Cys
XM_017013992.2:c.3487A>T	XP_016869481.1:p.Ser1163Cys
XM_017013993.2:c.3472A>T	XP_016869482.1:p.Ser1158Cys
XM_017013994.2:c.3466A>T	XP_016869483.1:p.Ser1156Cys
XM_017013995.2:c.3397A>T	XP_016869484.1:p.Ser1133Cys
XM_017013996.2:c.3558+4A>T	XP_016869485.1:n.3558+4A>T
XM_017013997.2:c.3364A>T	XP_016869486.1:p.Ser1122Cys
XM_017013998.1:c.3483+4A>T	XP_016869487.1:n.3483+4A>T
XM_017013999.2:c.3274A>T	XP_016869488.1:p.Ser1092Cys
XM_017014000.1:c.2425A>T	XP_016869489.1:p.Ser809Cys
XM_017014001.2:c.2335A>T	XP_016869490.1:p.Ser779Cys
XR_001745626.2:n.3439-118A>T
XR_001745627.2:n.3534+4A>T
XR_001745628.2:n.3425+4A>T
XR_001745629.2:n.3288+4A>T
XR_001745630.2:n.3090+4A>T
NM_004260.4:c.3393+4A>T MANE Select	NP_004251.4:n.3393+4A>T