Canonical Allele Identifier: CA4947646

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 459491
• ClinVar RCV Id: RCV000541781 ; RCV002255438
• dbSNP Id: rs535259922
• ExAC: 8:145736878 A / G
• gnomAD v2: 8-145736878-A-G
• gnomAD v3: 8-144511495-A-G
• gnomAD v4: 8-144511495-A-G
• MyVariant Identifiers: chr8:g.145736878A>G (hg19) ; chr8:g.144511495A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511495A>G , CM000670.2:g.144511495A>G	GRCh38
NC_000008.10:g.145736878A>G , CM000670.1:g.145736878A>G	GRCh37
NC_000008.9:g.145707686A>G	NCBI36
NG_016430.1:g.11332T>C
NG_016430.2:g.11332T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3563T>C MANE Select	ENSP00000482313.2:p.Leu1188Pro
ENST00000301323.7:c.580T>C
ENST00000529424.2:n.219T>C
ENST00000531875.2:c.818T>C	ENSP00000477910.1:p.Leu273Pro
ENST00000617875.4:c.3563T>C	ENSP00000482313.1:p.Leu1188Pro
ENST00000621189.4:c.2492T>C	ENSP00000483145.1:p.Leu831Pro
NM_004260.3:c.3563T>C	NP_004251.3:p.Leu1188Pro
XM_011517380.1:c.3638T>C	XP_011515682.1:p.Leu1213Pro
XM_011517381.1:c.3542T>C	XP_011515683.1:p.Leu1181Pro
XM_011517382.1:c.3446T>C	XP_011515684.1:p.Leu1149Pro
XM_011517383.1:c.3440T>C	XP_011515685.1:p.Leu1147Pro
XM_011517384.1:c.3365T>C	XP_011515686.1:p.Leu1122Pro
XM_011517385.1:c.2501T>C	XP_011515687.1:p.Leu834Pro
XR_928366.1:n.3522T>C
XR_928367.1:n.3618T>C
XR_928368.1:n.3511T>C
XM_011517384.3:c.3365T>C	XP_011515686.1:p.Leu1122Pro
XM_017013991.2:c.3849T>C	XP_016869480.1:p.Pro1283=
XM_017013992.2:c.3774T>C	XP_016869481.1:p.Pro1258=
XM_017013993.2:c.3759T>C	XP_016869482.1:p.Pro1253=
XM_017013994.2:c.3753T>C	XP_016869483.1:p.Pro1251=
XM_017013995.2:c.3684T>C	XP_016869484.1:p.Pro1228=
XM_017013996.2:c.3728T>C	XP_016869485.1:p.Leu1243Pro
XM_017013997.2:c.3651T>C	XP_016869486.1:p.Pro1217=
XM_017013998.1:c.3653T>C	XP_016869487.1:p.Leu1218Pro
XM_017013999.2:c.3561T>C	XP_016869488.1:p.Pro1187=
XM_017014000.1:c.2712T>C	XP_016869489.1:p.Pro904=
XM_017014001.2:c.2622T>C	XP_016869490.1:p.Pro874=
XR_001745626.2:n.3608T>C
XR_001745627.2:n.3704T>C
XR_001745628.2:n.3595T>C
XR_001745629.2:n.3458T>C
XR_001745630.2:n.3260T>C
NM_004260.4:c.3563T>C MANE Select	NP_004251.4:p.Leu1188Pro