Canonical Allele Identifier: CA248950

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 218625
• ClinVar RCV Id: RCV000202761 ; RCV002255319 ; RCV004530211 ; RCV000553918
• dbSNP Id: rs549381989
• ExAC: 8:145741475 G / A
• gnomAD v2: 8-145741475-G-A
• gnomAD v3: 8-144516091-G-A
• gnomAD v4: 8-144516091-G-A
• MyVariant Identifiers: chr8:g.145741475G>A (hg19) ; chr8:g.144516091G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144516091G>A , CM000670.2:g.144516091G>A	GRCh38
NC_000008.10:g.145741475G>A , CM000670.1:g.145741475G>A	GRCh37
NC_000008.9:g.145712283G>A	NCBI36
NG_016430.1:g.6736C>T
NG_033083.1:g.3127G>A
NG_016430.2:g.6736C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.1028C>T MANE Select	ENSP00000482313.2:p.Pro343Leu
ENST00000524998.1:c.550C>T
ENST00000617875.4:c.1028C>T	ENSP00000482313.1:p.Pro343Leu
ENST00000621189.4:c.-44C>T	ENSP00000483145.1:n.-44C>T
NM_004260.3:c.1028C>T	NP_004251.3:p.Pro343Leu
XM_011517380.1:c.1028C>T	XP_011515682.1:p.Pro343Leu
XM_011517381.1:c.954-22C>T	XP_011515683.1:n.954-22C>T
XM_011517382.1:c.1028C>T	XP_011515684.1:p.Pro343Leu
XM_011517383.1:c.1028C>T	XP_011515685.1:p.Pro343Leu
XM_011517384.1:c.1028C>T	XP_011515686.1:p.Pro343Leu
XR_928366.1:n.1069C>T
XR_928367.1:n.1069C>T
XR_928368.1:n.1071C>T
XM_011517384.3:c.1028C>T	XP_011515686.1:p.Pro343Leu
XM_017013991.2:c.1028C>T	XP_016869480.1:p.Pro343Leu
XM_017013992.2:c.1028C>T	XP_016869481.1:p.Pro343Leu
XM_017013993.2:c.1028C>T	XP_016869482.1:p.Pro343Leu
XM_017013994.2:c.954-22C>T	XP_016869483.1:n.954-22C>T
XM_017013995.2:c.1028C>T	XP_016869484.1:p.Pro343Leu
XM_017013996.2:c.1028C>T	XP_016869485.1:p.Pro343Leu
XM_017013997.2:c.1028C>T	XP_016869486.1:p.Pro343Leu
XM_017013998.1:c.1028C>T	XP_016869487.1:p.Pro343Leu
XM_017013999.2:c.1028C>T	XP_016869488.1:p.Pro343Leu
XM_017014001.2:c.-106C>T	XP_016869490.1:n.-106C>T
XR_001745626.2:n.1065C>T
XR_001745627.2:n.1065C>T
XR_001745628.2:n.1065C>T
XR_001745629.2:n.1065C>T
XR_001745630.2:n.1065C>T
NM_004260.4:c.1028C>T MANE Select	NP_004251.4:p.Pro343Leu