Canonical Allele Identifier: CA372669165

Gene: RECQL4

Linked Data

• MyVariant Identifiers: chr8:g.145737423G>T (hg19) ; chr8:g.144512040G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144512040G>T , CM000670.2:g.144512040G>T	GRCh38
NC_000008.10:g.145737423G>T , CM000670.1:g.145737423G>T	GRCh37
NC_000008.9:g.145708231G>T	NCBI36
NG_016430.1:g.10787C>A
NG_016430.2:g.10787C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000617875.6:c.3264C>A MANE Select	ENSP00000482313.2:p.Cys1088Ter
ENST00000301323.7:c.281C>A
ENST00000529424.2:n.50-251C>A
ENST00000531875.2:c.510C>A	ENSP00000477910.1:p.Cys170Ter
ENST00000617875.4:c.3264C>A	ENSP00000482313.1:p.Cys1088Ter
ENST00000621189.4:c.2193C>A	ENSP00000483145.1:p.Cys731Ter
NM_004260.3:c.3264C>A	NP_004251.3:p.Cys1088Ter
XM_011517380.1:c.3339C>A	XP_011515682.1:p.Cys1113Ter
XM_011517381.1:c.3243C>A	XP_011515683.1:p.Cys1081Ter
XM_011517382.1:c.3147C>A	XP_011515684.1:p.Cys1049Ter
XM_011517383.1:c.3141C>A	XP_011515685.1:p.Cys1047Ter
XM_011517384.1:c.3066C>A	XP_011515686.1:p.Cys1022Ter
XM_011517385.1:c.2202C>A	XP_011515687.1:p.Cys734Ter
XR_928366.1:n.3352+104C>A
XR_928367.1:n.3319C>A
XR_928368.1:n.3212C>A
XM_011517384.3:c.3066C>A	XP_011515686.1:p.Cys1022Ter
XM_017013991.2:c.3429C>A	XP_016869480.1:p.Cys1143Ter
XM_017013992.2:c.3354C>A	XP_016869481.1:p.Cys1118Ter
XM_017013993.2:c.3339C>A	XP_016869482.1:p.Cys1113Ter
XM_017013994.2:c.3333C>A	XP_016869483.1:p.Cys1111Ter
XM_017013995.2:c.3264C>A	XP_016869484.1:p.Cys1088Ter
XM_017013996.2:c.3429C>A	XP_016869485.1:p.Cys1143Ter
XM_017013997.2:c.3231C>A	XP_016869486.1:p.Cys1077Ter
XM_017013998.1:c.3354C>A	XP_016869487.1:p.Cys1118Ter
XM_017013999.2:c.3141C>A	XP_016869488.1:p.Cys1047Ter
XM_017014000.1:c.2292C>A	XP_016869489.1:p.Cys764Ter
XM_017014001.2:c.2202C>A	XP_016869490.1:p.Cys734Ter
XR_001745626.2:n.3438+104C>A
XR_001745627.2:n.3405C>A
XR_001745628.2:n.3296C>A
XR_001745629.2:n.3159C>A
XR_001745630.2:n.2961C>A
NM_004260.4:c.3264C>A MANE Select	NP_004251.4:p.Cys1088Ter