Canonical Allele Identifier: CA372669173

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 1353799
• ClinVar RCV Id: RCV001863604
• dbSNP Id: rs780200030
• gnomAD v4: 8-144512041-C-A
• MyVariant Identifiers: chr8:g.145737424C>A (hg19) ; chr8:g.144512041C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144512041C>A , CM000670.2:g.144512041C>A	GRCh38
NC_000008.10:g.145737424C>A , CM000670.1:g.145737424C>A	GRCh37
NC_000008.9:g.145708232C>A	NCBI36
NG_016430.1:g.10786G>T
NG_016430.2:g.10786G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000617875.6:c.3263G>T MANE Select	ENSP00000482313.2:p.Cys1088Phe
ENST00000301323.7:c.280G>T
ENST00000529424.2:n.50-252G>T
ENST00000531875.2:c.509G>T	ENSP00000477910.1:p.Cys170Phe
ENST00000617875.4:c.3263G>T	ENSP00000482313.1:p.Cys1088Phe
ENST00000621189.4:c.2192G>T	ENSP00000483145.1:p.Cys731Phe
NM_004260.3:c.3263G>T	NP_004251.3:p.Cys1088Phe
XM_011517380.1:c.3338G>T	XP_011515682.1:p.Cys1113Phe
XM_011517381.1:c.3242G>T	XP_011515683.1:p.Cys1081Phe
XM_011517382.1:c.3146G>T	XP_011515684.1:p.Cys1049Phe
XM_011517383.1:c.3140G>T	XP_011515685.1:p.Cys1047Phe
XM_011517384.1:c.3065G>T	XP_011515686.1:p.Cys1022Phe
XM_011517385.1:c.2201G>T	XP_011515687.1:p.Cys734Phe
XR_928366.1:n.3352+103G>T
XR_928367.1:n.3318G>T
XR_928368.1:n.3211G>T
XM_011517384.3:c.3065G>T	XP_011515686.1:p.Cys1022Phe
XM_017013991.2:c.3428G>T	XP_016869480.1:p.Cys1143Phe
XM_017013992.2:c.3353G>T	XP_016869481.1:p.Cys1118Phe
XM_017013993.2:c.3338G>T	XP_016869482.1:p.Cys1113Phe
XM_017013994.2:c.3332G>T	XP_016869483.1:p.Cys1111Phe
XM_017013995.2:c.3263G>T	XP_016869484.1:p.Cys1088Phe
XM_017013996.2:c.3428G>T	XP_016869485.1:p.Cys1143Phe
XM_017013997.2:c.3230G>T	XP_016869486.1:p.Cys1077Phe
XM_017013998.1:c.3353G>T	XP_016869487.1:p.Cys1118Phe
XM_017013999.2:c.3140G>T	XP_016869488.1:p.Cys1047Phe
XM_017014000.1:c.2291G>T	XP_016869489.1:p.Cys764Phe
XM_017014001.2:c.2201G>T	XP_016869490.1:p.Cys734Phe
XR_001745626.2:n.3438+103G>T
XR_001745627.2:n.3404G>T
XR_001745628.2:n.3295G>T
XR_001745629.2:n.3158G>T
XR_001745630.2:n.2960G>T
NM_004260.4:c.3263G>T MANE Select	NP_004251.4:p.Cys1088Phe