Canonical Allele Identifier: CA463565994

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 1543060
• ClinVar RCV Id: RCV002181977
• dbSNP Id: rs1193979802
• gnomAD v2: 8-145737420-C-T
• gnomAD v4: 8-144512037-C-T
• MyVariant Identifiers: chr8:g.145737420C>T (hg19) ; chr8:g.144512037C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144512037C>T , CM000670.2:g.144512037C>T	GRCh38
NC_000008.10:g.145737420C>T , CM000670.1:g.145737420C>T	GRCh37
NC_000008.9:g.145708228C>T	NCBI36
NG_016430.1:g.10790G>A
NG_016430.2:g.10790G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000617875.6:c.3267G>A MANE Select	ENSP00000482313.2:p.Leu1089=
ENST00000301323.7:c.284G>A
ENST00000529424.2:n.50-248G>A
ENST00000531875.2:c.513G>A	ENSP00000477910.1:p.Leu171=
ENST00000617875.4:c.3267G>A	ENSP00000482313.1:p.Leu1089=
ENST00000621189.4:c.2196G>A	ENSP00000483145.1:p.Leu732=
NM_004260.3:c.3267G>A	NP_004251.3:p.Leu1089=
XM_011517380.1:c.3342G>A	XP_011515682.1:p.Leu1114=
XM_011517381.1:c.3246G>A	XP_011515683.1:p.Leu1082=
XM_011517382.1:c.3150G>A	XP_011515684.1:p.Leu1050=
XM_011517383.1:c.3144G>A	XP_011515685.1:p.Leu1048=
XM_011517384.1:c.3069G>A	XP_011515686.1:p.Leu1023=
XM_011517385.1:c.2205G>A	XP_011515687.1:p.Leu735=
XR_928366.1:n.3352+107G>A
XR_928367.1:n.3322G>A
XR_928368.1:n.3215G>A
XM_011517384.3:c.3069G>A	XP_011515686.1:p.Leu1023=
XM_017013991.2:c.3432G>A	XP_016869480.1:p.Leu1144=
XM_017013992.2:c.3357G>A	XP_016869481.1:p.Leu1119=
XM_017013993.2:c.3342G>A	XP_016869482.1:p.Leu1114=
XM_017013994.2:c.3336G>A	XP_016869483.1:p.Leu1112=
XM_017013995.2:c.3267G>A	XP_016869484.1:p.Leu1089=
XM_017013996.2:c.3432G>A	XP_016869485.1:p.Leu1144=
XM_017013997.2:c.3234G>A	XP_016869486.1:p.Leu1078=
XM_017013998.1:c.3357G>A	XP_016869487.1:p.Leu1119=
XM_017013999.2:c.3144G>A	XP_016869488.1:p.Leu1048=
XM_017014000.1:c.2295G>A	XP_016869489.1:p.Leu765=
XM_017014001.2:c.2205G>A	XP_016869490.1:p.Leu735=
XR_001745626.2:n.3438+107G>A
XR_001745627.2:n.3408G>A
XR_001745628.2:n.3299G>A
XR_001745629.2:n.3162G>A
XR_001745630.2:n.2964G>A
NM_004260.4:c.3267G>A MANE Select	NP_004251.4:p.Leu1089=