Canonical Allele Identifier: CA586165178

Gene: RECQL4

Linked Data

• dbSNP Id: rs1264274553
• gnomAD v2: 8-145737255-C-G
• gnomAD v3: 8-144511872-C-G
• gnomAD v4: 8-144511872-C-G
• MyVariant Identifiers: chr8:g.145737255C>G (hg19) ; chr8:g.144511872C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511872C>G , CM000670.2:g.144511872C>G	GRCh38
NC_000008.10:g.145737255C>G , CM000670.1:g.145737255C>G	GRCh37
NC_000008.9:g.145708063C>G	NCBI36
NG_016430.1:g.10955G>C
NG_016430.2:g.10955G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393+39G>C MANE Select	ENSP00000482313.2:n.3393+39G>C
ENST00000301323.7:c.410+39G>C
ENST00000529424.2:n.50-83G>C
ENST00000531875.2:c.648+30G>C	ENSP00000477910.1:n.648+30G>C
ENST00000617875.4:c.3393+39G>C	ENSP00000482313.1:n.3393+39G>C
ENST00000621189.4:c.2322+39G>C	ENSP00000483145.1:n.2322+39G>C
NM_004260.3:c.3393+39G>C	NP_004251.3:n.3393+39G>C
XM_011517380.1:c.3468+39G>C	XP_011515682.1:n.3468+39G>C
XM_011517381.1:c.3372+39G>C	XP_011515683.1:n.3372+39G>C
XM_011517382.1:c.3276+39G>C	XP_011515684.1:n.3276+39G>C
XM_011517383.1:c.3270+39G>C	XP_011515685.1:n.3270+39G>C
XM_011517384.1:c.3195+39G>C	XP_011515686.1:n.3195+39G>C
XM_011517385.1:c.2331+39G>C	XP_011515687.1:n.2331+39G>C
XR_928366.1:n.3353-83G>C
XR_928367.1:n.3448+39G>C
XR_928368.1:n.3341+39G>C
XM_011517384.3:c.3195+39G>C	XP_011515686.1:n.3195+39G>C
XM_017013991.2:c.3597G>C	XP_016869480.1:p.Gln1199His
XM_017013992.2:c.3522G>C	XP_016869481.1:p.Gln1174His
XM_017013993.2:c.3507G>C	XP_016869482.1:p.Gln1169His
XM_017013994.2:c.3501G>C	XP_016869483.1:p.Gln1167His
XM_017013995.2:c.3432G>C	XP_016869484.1:p.Gln1144His
XM_017013996.2:c.3558+39G>C	XP_016869485.1:n.3558+39G>C
XM_017013997.2:c.3399G>C	XP_016869486.1:p.Gln1133His
XM_017013998.1:c.3483+39G>C	XP_016869487.1:n.3483+39G>C
XM_017013999.2:c.3309G>C	XP_016869488.1:p.Gln1103His
XM_017014000.1:c.2460G>C	XP_016869489.1:p.Gln820His
XM_017014001.2:c.2370G>C	XP_016869490.1:p.Gln790His
XR_001745626.2:n.3439-83G>C
XR_001745627.2:n.3534+39G>C
XR_001745628.2:n.3425+39G>C
XR_001745629.2:n.3288+39G>C
XR_001745630.2:n.3090+39G>C
NM_004260.4:c.3393+39G>C MANE Select	NP_004251.4:n.3393+39G>C