Canonical Allele Identifier: CA4949472

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 1009469
• ClinVar RCV Id: RCV001306962
• dbSNP Id: rs551963857
• ExAC: 8:145742862 C / T
• gnomAD v2: 8-145742862-C-T
• gnomAD v3: 8-144517478-C-T
• gnomAD v4: 8-144517478-C-T
• MyVariant Identifiers: chr8:g.145742862C>T (hg19) ; chr8:g.144517478C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144517478C>T , CM000670.2:g.144517478C>T	GRCh38
NC_000008.10:g.145742862C>T , CM000670.1:g.145742862C>T	GRCh37
NC_000008.9:g.145713670C>T	NCBI36
NG_016430.1:g.5349G>A
NG_033083.1:g.4514C>T
NG_016430.2:g.5349G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.149G>A MANE Select	ENSP00000482313.2:p.Arg50His
ENST00000524998.1:c.22G>A
ENST00000534270.1:n.95G>A
ENST00000534538.1:c.103G>A
ENST00000617875.4:c.149G>A	ENSP00000482313.1:p.Arg50His
ENST00000621189.4:c.-923G>A	ENSP00000483145.1:n.-923G>A
NM_004260.3:c.149G>A	NP_004251.3:p.Arg50His
XM_011517380.1:c.149G>A	XP_011515682.1:p.Arg50His
XM_011517381.1:c.149G>A	XP_011515683.1:p.Arg50His
XM_011517382.1:c.149G>A	XP_011515684.1:p.Arg50His
XM_011517383.1:c.149G>A	XP_011515685.1:p.Arg50His
XM_011517384.1:c.149G>A	XP_011515686.1:p.Arg50His
XR_928366.1:n.190G>A
XR_928367.1:n.190G>A
XR_928368.1:n.192G>A
XM_011517384.3:c.149G>A	XP_011515686.1:p.Arg50His
XM_017013991.2:c.149G>A	XP_016869480.1:p.Arg50His
XM_017013992.2:c.149G>A	XP_016869481.1:p.Arg50His
XM_017013993.2:c.149G>A	XP_016869482.1:p.Arg50His
XM_017013994.2:c.149G>A	XP_016869483.1:p.Arg50His
XM_017013995.2:c.149G>A	XP_016869484.1:p.Arg50His
XM_017013996.2:c.149G>A	XP_016869485.1:p.Arg50His
XM_017013997.2:c.149G>A	XP_016869486.1:p.Arg50His
XM_017013998.1:c.149G>A	XP_016869487.1:p.Arg50His
XM_017013999.2:c.149G>A	XP_016869488.1:p.Arg50His
XM_017014001.2:c.-985G>A	XP_016869490.1:n.-985G>A
XR_001745626.2:n.186G>A
XR_001745627.2:n.186G>A
XR_001745628.2:n.186G>A
XR_001745629.2:n.186G>A
XR_001745630.2:n.186G>A
NM_004260.4:c.149G>A MANE Select	NP_004251.4:p.Arg50His