Canonical Allele Identifier: CA372667870

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 655003
• ClinVar RCV Id: RCV000811085
• dbSNP Id: rs1586790519
• gnomAD v4: 8-144511910-C-T
• MyVariant Identifiers: chr8:g.145737293C>T (hg19) ; chr8:g.144511910C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511910C>T , CM000670.2:g.144511910C>T	GRCh38
NC_000008.10:g.145737293C>T , CM000670.1:g.145737293C>T	GRCh37
NC_000008.9:g.145708101C>T	NCBI36
NG_016430.1:g.10917G>A
NG_016430.2:g.10917G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+1G>A MANE Select	ENSP00000482313.2:n.3393+1G>A
ENST00000301323.7:c.410+1G>A
ENST00000529424.2:n.50-121G>A
ENST00000531875.2:c.640G>A	ENSP00000477910.1:p.Val214Met
ENST00000617875.4:c.3393+1G>A	ENSP00000482313.1:n.3393+1G>A
ENST00000621189.4:c.2322+1G>A	ENSP00000483145.1:n.2322+1G>A
NM_004260.3:c.3393+1G>A	NP_004251.3:n.3393+1G>A
XM_011517380.1:c.3468+1G>A	XP_011515682.1:n.3468+1G>A
XM_011517381.1:c.3372+1G>A	XP_011515683.1:n.3372+1G>A
XM_011517382.1:c.3276+1G>A	XP_011515684.1:n.3276+1G>A
XM_011517383.1:c.3270+1G>A	XP_011515685.1:n.3270+1G>A
XM_011517384.1:c.3195+1G>A	XP_011515686.1:n.3195+1G>A
XM_011517385.1:c.2331+1G>A	XP_011515687.1:n.2331+1G>A
XR_928366.1:n.3353-121G>A
XR_928367.1:n.3448+1G>A
XR_928368.1:n.3341+1G>A
XM_011517384.3:c.3195+1G>A	XP_011515686.1:n.3195+1G>A
XM_017013991.2:c.3559G>A	XP_016869480.1:p.Val1187Met
XM_017013992.2:c.3484G>A	XP_016869481.1:p.Val1162Met
XM_017013993.2:c.3469G>A	XP_016869482.1:p.Val1157Met
XM_017013994.2:c.3463G>A	XP_016869483.1:p.Val1155Met
XM_017013995.2:c.3394G>A	XP_016869484.1:p.Val1132Met
XM_017013996.2:c.3558+1G>A	XP_016869485.1:n.3558+1G>A
XM_017013997.2:c.3361G>A	XP_016869486.1:p.Val1121Met
XM_017013998.1:c.3483+1G>A	XP_016869487.1:n.3483+1G>A
XM_017013999.2:c.3271G>A	XP_016869488.1:p.Val1091Met
XM_017014000.1:c.2422G>A	XP_016869489.1:p.Val808Met
XM_017014001.2:c.2332G>A	XP_016869490.1:p.Val778Met
XR_001745626.2:n.3439-121G>A
XR_001745627.2:n.3534+1G>A
XR_001745628.2:n.3425+1G>A
XR_001745629.2:n.3288+1G>A
XR_001745630.2:n.3090+1G>A
NM_004260.4:c.3393+1G>A MANE Select	NP_004251.4:n.3393+1G>A