Canonical Allele Identifier: CA848891229

Gene: RECQL4

Linked Data

• dbSNP Id: rs1331477111
• gnomAD v4: 8-144511856-A-G
• MyVariant Identifiers: chr8:g.145737239A>G (hg19) ; chr8:g.144511856A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511856A>G , CM000670.2:g.144511856A>G	GRCh38
NC_000008.10:g.145737239A>G , CM000670.1:g.145737239A>G	GRCh37
NC_000008.9:g.145708047A>G	NCBI36
NG_016430.1:g.10971T>C
NG_016430.2:g.10971T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+55T>C MANE Select	ENSP00000482313.2:n.3393+55T>C
ENST00000301323.7:c.410+55T>C
ENST00000529424.2:n.50-67T>C
ENST00000531875.2:c.648+46T>C	ENSP00000477910.1:n.648+46T>C
ENST00000617875.4:c.3393+55T>C	ENSP00000482313.1:n.3393+55T>C
ENST00000621189.4:c.2322+55T>C	ENSP00000483145.1:n.2322+55T>C
NM_004260.3:c.3393+55T>C	NP_004251.3:n.3393+55T>C
XM_011517380.1:c.3468+55T>C	XP_011515682.1:n.3468+55T>C
XM_011517381.1:c.3372+55T>C	XP_011515683.1:n.3372+55T>C
XM_011517382.1:c.3276+55T>C	XP_011515684.1:n.3276+55T>C
XM_011517383.1:c.3270+55T>C	XP_011515685.1:n.3270+55T>C
XM_011517384.1:c.3195+55T>C	XP_011515686.1:n.3195+55T>C
XM_011517385.1:c.2331+55T>C	XP_011515687.1:n.2331+55T>C
XR_928366.1:n.3353-67T>C
XR_928367.1:n.3448+55T>C
XR_928368.1:n.3341+55T>C
XM_011517384.3:c.3195+55T>C	XP_011515686.1:n.3195+55T>C
XM_017013991.2:c.3613T>C	XP_016869480.1:p.Trp1205Arg
XM_017013992.2:c.3538T>C	XP_016869481.1:p.Trp1180Arg
XM_017013993.2:c.3523T>C	XP_016869482.1:p.Trp1175Arg
XM_017013994.2:c.3517T>C	XP_016869483.1:p.Trp1173Arg
XM_017013995.2:c.3448T>C	XP_016869484.1:p.Trp1150Arg
XM_017013996.2:c.3558+55T>C	XP_016869485.1:n.3558+55T>C
XM_017013997.2:c.3415T>C	XP_016869486.1:p.Trp1139Arg
XM_017013998.1:c.3483+55T>C	XP_016869487.1:n.3483+55T>C
XM_017013999.2:c.3325T>C	XP_016869488.1:p.Trp1109Arg
XM_017014000.1:c.2476T>C	XP_016869489.1:p.Trp826Arg
XM_017014001.2:c.2386T>C	XP_016869490.1:p.Trp796Arg
XR_001745626.2:n.3439-67T>C
XR_001745627.2:n.3534+55T>C
XR_001745628.2:n.3425+55T>C
XR_001745629.2:n.3288+55T>C
XR_001745630.2:n.3090+55T>C
NM_004260.4:c.3393+55T>C MANE Select	NP_004251.4:n.3393+55T>C