Canonical Allele Identifier: CA4949118

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 1019213
• ClinVar RCV Id: RCV001318620 ; RCV003153989
• dbSNP Id: rs757933716
• ExAC: 8:145741515 C / T
• gnomAD v2: 8-145741515-C-T
• gnomAD v3: 8-144516131-C-T
• gnomAD v4: 8-144516131-C-T
• MyVariant Identifiers: chr8:g.145741515C>T (hg19) ; chr8:g.144516131C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144516131C>T , CM000670.2:g.144516131C>T	GRCh38
NC_000008.10:g.145741515C>T , CM000670.1:g.145741515C>T	GRCh37
NC_000008.9:g.145712323C>T	NCBI36
NG_016430.1:g.6696G>A
NG_033083.1:g.3167C>T
NG_016430.2:g.6696G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.988G>A MANE Select	ENSP00000482313.2:p.Ala330Thr
ENST00000524998.1:c.510G>A
ENST00000617875.4:c.988G>A	ENSP00000482313.1:p.Ala330Thr
ENST00000621189.4:c.-84G>A	ENSP00000483145.1:n.-84G>A
NM_004260.3:c.988G>A	NP_004251.3:p.Ala330Thr
XM_011517380.1:c.988G>A	XP_011515682.1:p.Ala330Thr
XM_011517381.1:c.953+35G>A	XP_011515683.1:n.953+35G>A
XM_011517382.1:c.988G>A	XP_011515684.1:p.Ala330Thr
XM_011517383.1:c.988G>A	XP_011515685.1:p.Ala330Thr
XM_011517384.1:c.988G>A	XP_011515686.1:p.Ala330Thr
XR_928366.1:n.1029G>A
XR_928367.1:n.1029G>A
XR_928368.1:n.1031G>A
XM_011517384.3:c.988G>A	XP_011515686.1:p.Ala330Thr
XM_017013991.2:c.988G>A	XP_016869480.1:p.Ala330Thr
XM_017013992.2:c.988G>A	XP_016869481.1:p.Ala330Thr
XM_017013993.2:c.988G>A	XP_016869482.1:p.Ala330Thr
XM_017013994.2:c.953+35G>A	XP_016869483.1:n.953+35G>A
XM_017013995.2:c.988G>A	XP_016869484.1:p.Ala330Thr
XM_017013996.2:c.988G>A	XP_016869485.1:p.Ala330Thr
XM_017013997.2:c.988G>A	XP_016869486.1:p.Ala330Thr
XM_017013998.1:c.988G>A	XP_016869487.1:p.Ala330Thr
XM_017013999.2:c.988G>A	XP_016869488.1:p.Ala330Thr
XM_017014001.2:c.-146G>A	XP_016869490.1:n.-146G>A
XR_001745626.2:n.1025G>A
XR_001745627.2:n.1025G>A
XR_001745628.2:n.1025G>A
XR_001745629.2:n.1025G>A
XR_001745630.2:n.1025G>A
NM_004260.4:c.988G>A MANE Select	NP_004251.4:p.Ala330Thr