Canonical Allele Identifier: CA848891234

Gene: RECQL4

Linked Data

• dbSNP Id: rs1257305568
• gnomAD v3: 8-144511857-T-C
• gnomAD v4: 8-144511857-T-C
• MyVariant Identifiers: chr8:g.145737240T>C (hg19) ; chr8:g.144511857T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511857T>C , CM000670.2:g.144511857T>C	GRCh38
NC_000008.10:g.145737240T>C , CM000670.1:g.145737240T>C	GRCh37
NC_000008.9:g.145708048T>C	NCBI36
NG_016430.1:g.10970A>G
NG_016430.2:g.10970A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+54A>G MANE Select	ENSP00000482313.2:n.3393+54A>G
ENST00000301323.7:c.410+54A>G
ENST00000529424.2:n.50-68A>G
ENST00000531875.2:c.648+45A>G	ENSP00000477910.1:n.648+45A>G
ENST00000617875.4:c.3393+54A>G	ENSP00000482313.1:n.3393+54A>G
ENST00000621189.4:c.2322+54A>G	ENSP00000483145.1:n.2322+54A>G
NM_004260.3:c.3393+54A>G	NP_004251.3:n.3393+54A>G
XM_011517380.1:c.3468+54A>G	XP_011515682.1:n.3468+54A>G
XM_011517381.1:c.3372+54A>G	XP_011515683.1:n.3372+54A>G
XM_011517382.1:c.3276+54A>G	XP_011515684.1:n.3276+54A>G
XM_011517383.1:c.3270+54A>G	XP_011515685.1:n.3270+54A>G
XM_011517384.1:c.3195+54A>G	XP_011515686.1:n.3195+54A>G
XM_011517385.1:c.2331+54A>G	XP_011515687.1:n.2331+54A>G
XR_928366.1:n.3353-68A>G
XR_928367.1:n.3448+54A>G
XR_928368.1:n.3341+54A>G
XM_011517384.3:c.3195+54A>G	XP_011515686.1:n.3195+54A>G
XM_017013991.2:c.3612A>G	XP_016869480.1:p.Ala1204=
XM_017013992.2:c.3537A>G	XP_016869481.1:p.Ala1179=
XM_017013993.2:c.3522A>G	XP_016869482.1:p.Ala1174=
XM_017013994.2:c.3516A>G	XP_016869483.1:p.Ala1172=
XM_017013995.2:c.3447A>G	XP_016869484.1:p.Ala1149=
XM_017013996.2:c.3558+54A>G	XP_016869485.1:n.3558+54A>G
XM_017013997.2:c.3414A>G	XP_016869486.1:p.Ala1138=
XM_017013998.1:c.3483+54A>G	XP_016869487.1:n.3483+54A>G
XM_017013999.2:c.3324A>G	XP_016869488.1:p.Ala1108=
XM_017014000.1:c.2475A>G	XP_016869489.1:p.Ala825=
XM_017014001.2:c.2385A>G	XP_016869490.1:p.Ala795=
XR_001745626.2:n.3439-68A>G
XR_001745627.2:n.3534+54A>G
XR_001745628.2:n.3425+54A>G
XR_001745629.2:n.3288+54A>G
XR_001745630.2:n.3090+54A>G
NM_004260.4:c.3393+54A>G MANE Select	NP_004251.4:n.3393+54A>G