Canonical Allele Identifier: CA586165185

Gene: RECQL4

Linked Data

• dbSNP Id: rs1448166862
• gnomAD v2: 8-145737275-C-G
• gnomAD v4: 8-144511892-C-G
• MyVariant Identifiers: chr8:g.145737275C>G (hg19) ; chr8:g.144511892C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511892C>G , CM000670.2:g.144511892C>G	GRCh38
NC_000008.10:g.145737275C>G , CM000670.1:g.145737275C>G	GRCh37
NC_000008.9:g.145708083C>G	NCBI36
NG_016430.1:g.10935G>C
NG_016430.2:g.10935G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+19G>C MANE Select	ENSP00000482313.2:n.3393+19G>C
ENST00000301323.7:c.410+19G>C
ENST00000529424.2:n.50-103G>C
ENST00000531875.2:c.648+10G>C	ENSP00000477910.1:n.648+10G>C
ENST00000617875.4:c.3393+19G>C	ENSP00000482313.1:n.3393+19G>C
ENST00000621189.4:c.2322+19G>C	ENSP00000483145.1:n.2322+19G>C
NM_004260.3:c.3393+19G>C	NP_004251.3:n.3393+19G>C
XM_011517380.1:c.3468+19G>C	XP_011515682.1:n.3468+19G>C
XM_011517381.1:c.3372+19G>C	XP_011515683.1:n.3372+19G>C
XM_011517382.1:c.3276+19G>C	XP_011515684.1:n.3276+19G>C
XM_011517383.1:c.3270+19G>C	XP_011515685.1:n.3270+19G>C
XM_011517384.1:c.3195+19G>C	XP_011515686.1:n.3195+19G>C
XM_011517385.1:c.2331+19G>C	XP_011515687.1:n.2331+19G>C
XR_928366.1:n.3353-103G>C
XR_928367.1:n.3448+19G>C
XR_928368.1:n.3341+19G>C
XM_011517384.3:c.3195+19G>C	XP_011515686.1:n.3195+19G>C
XM_017013991.2:c.3577G>C	XP_016869480.1:p.Gly1193Arg
XM_017013992.2:c.3502G>C	XP_016869481.1:p.Gly1168Arg
XM_017013993.2:c.3487G>C	XP_016869482.1:p.Gly1163Arg
XM_017013994.2:c.3481G>C	XP_016869483.1:p.Gly1161Arg
XM_017013995.2:c.3412G>C	XP_016869484.1:p.Gly1138Arg
XM_017013996.2:c.3558+19G>C	XP_016869485.1:n.3558+19G>C
XM_017013997.2:c.3379G>C	XP_016869486.1:p.Gly1127Arg
XM_017013998.1:c.3483+19G>C	XP_016869487.1:n.3483+19G>C
XM_017013999.2:c.3289G>C	XP_016869488.1:p.Gly1097Arg
XM_017014000.1:c.2440G>C	XP_016869489.1:p.Gly814Arg
XM_017014001.2:c.2350G>C	XP_016869490.1:p.Gly784Arg
XR_001745626.2:n.3439-103G>C
XR_001745627.2:n.3534+19G>C
XR_001745628.2:n.3425+19G>C
XR_001745629.2:n.3288+19G>C
XR_001745630.2:n.3090+19G>C
NM_004260.4:c.3393+19G>C MANE Select	NP_004251.4:n.3393+19G>C