Canonical Allele Identifier: CA463567343

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 770105
• ClinVar RCV Id: RCV001501765
• dbSNP Id: rs587778654
• gnomAD v4: 8-144515216-G-A
• MyVariant Identifiers: chr8:g.145740600G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515216G>A , CM000670.2:g.144515216G>A	GRCh38
NC_000008.10:g.145740600G>A , CM000670.1:g.145740600G>A	GRCh37
NC_000008.9:g.145711408G>A	NCBI36
NG_016430.1:g.7611C>T
NG_033083.1:g.2252G>A
NG_016430.2:g.7611C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000688394.1:n.440C>T
ENST00000617875.6:c.1417C>T MANE Select	ENSP00000482313.2:p.Leu473=
ENST00000532846.2:c.302C>T
ENST00000617875.4:c.1417C>T	ENSP00000482313.1:p.Leu473=
ENST00000621189.4:c.346C>T	ENSP00000483145.1:p.Leu116=
NM_004260.3:c.1417C>T	NP_004251.3:p.Leu473=
XM_011517380.1:c.1417C>T	XP_011515682.1:p.Leu473=
XM_011517381.1:c.1321C>T	XP_011515683.1:p.Leu441=
XM_011517382.1:c.1417C>T	XP_011515684.1:p.Leu473=
XM_011517383.1:c.1417C>T	XP_011515685.1:p.Leu473=
XM_011517384.1:c.1417C>T	XP_011515686.1:p.Leu473=
XM_011517385.1:c.280C>T	XP_011515687.1:p.Leu94=
XR_928366.1:n.1458C>T
XR_928367.1:n.1458C>T
XR_928368.1:n.1460C>T
XM_011517384.3:c.1417C>T	XP_011515686.1:p.Leu473=
XM_017013991.2:c.1417C>T	XP_016869480.1:p.Leu473=
XM_017013992.2:c.1417C>T	XP_016869481.1:p.Leu473=
XM_017013993.2:c.1417C>T	XP_016869482.1:p.Leu473=
XM_017013994.2:c.1321C>T	XP_016869483.1:p.Leu441=
XM_017013995.2:c.1417C>T	XP_016869484.1:p.Leu473=
XM_017013996.2:c.1417C>T	XP_016869485.1:p.Leu473=
XM_017013997.2:c.1417C>T	XP_016869486.1:p.Leu473=
XM_017013998.1:c.1417C>T	XP_016869487.1:p.Leu473=
XM_017013999.2:c.1417C>T	XP_016869488.1:p.Leu473=
XM_017014000.1:c.280C>T	XP_016869489.1:p.Leu94=
XM_017014001.2:c.280C>T	XP_016869490.1:p.Leu94=
XR_001745626.2:n.1454C>T
XR_001745627.2:n.1454C>T
XR_001745628.2:n.1454C>T
XR_001745629.2:n.1454C>T
XR_001745630.2:n.1454C>T
NM_004260.4:c.1417C>T MANE Select	NP_004251.4:p.Leu473=