Canonical Allele Identifier: CA4949064

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 406904
• ClinVar RCV Id: RCV003324749
• dbSNP Id: rs370125881
• ExAC: 8:145741386 G / A
• gnomAD v2: 8-145741386-G-A
• gnomAD v3: 8-144516002-G-A
• gnomAD v4: 8-144516002-G-A
• MyVariant Identifiers: chr8:g.145741386G>A (hg19) ; chr8:g.144516002G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144516002G>A , CM000670.2:g.144516002G>A	GRCh38
NC_000008.10:g.145741386G>A , CM000670.1:g.145741386G>A	GRCh37
NC_000008.9:g.145712194G>A	NCBI36
NG_016430.1:g.6825C>T
NG_033083.1:g.3038G>A
NG_016430.2:g.6825C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000617875.6:c.1117C>T MANE Select	ENSP00000482313.2:p.Leu373Phe
ENST00000524998.1:c.639C>T
ENST00000532846.2:c.2C>T
ENST00000617875.4:c.1117C>T	ENSP00000482313.1:p.Leu373Phe
ENST00000621189.4:c.46C>T	ENSP00000483145.1:p.Leu16Phe
NM_004260.3:c.1117C>T	NP_004251.3:p.Leu373Phe
XM_011517380.1:c.1117C>T	XP_011515682.1:p.Leu373Phe
XM_011517381.1:c.1021C>T	XP_011515683.1:p.Leu341Phe
XM_011517382.1:c.1117C>T	XP_011515684.1:p.Leu373Phe
XM_011517383.1:c.1117C>T	XP_011515685.1:p.Leu373Phe
XM_011517384.1:c.1117C>T	XP_011515686.1:p.Leu373Phe
XM_011517385.1:c.-17C>T	XP_011515687.1:n.-17C>T
XR_928366.1:n.1158C>T
XR_928367.1:n.1158C>T
XR_928368.1:n.1160C>T
XM_011517384.3:c.1117C>T	XP_011515686.1:p.Leu373Phe
XM_017013991.2:c.1117C>T	XP_016869480.1:p.Leu373Phe
XM_017013992.2:c.1117C>T	XP_016869481.1:p.Leu373Phe
XM_017013993.2:c.1117C>T	XP_016869482.1:p.Leu373Phe
XM_017013994.2:c.1021C>T	XP_016869483.1:p.Leu341Phe
XM_017013995.2:c.1117C>T	XP_016869484.1:p.Leu373Phe
XM_017013996.2:c.1117C>T	XP_016869485.1:p.Leu373Phe
XM_017013997.2:c.1117C>T	XP_016869486.1:p.Leu373Phe
XM_017013998.1:c.1117C>T	XP_016869487.1:p.Leu373Phe
XM_017013999.2:c.1117C>T	XP_016869488.1:p.Leu373Phe
XM_017014000.1:c.-17C>T	XP_016869489.1:n.-17C>T
XM_017014001.2:c.-17C>T	XP_016869490.1:n.-17C>T
XR_001745626.2:n.1154C>T
XR_001745627.2:n.1154C>T
XR_001745628.2:n.1154C>T
XR_001745629.2:n.1154C>T
XR_001745630.2:n.1154C>T
NM_004260.4:c.1117C>T MANE Select	NP_004251.4:p.Leu373Phe