Canonical Allele Identifier: CA372667888

Gene: RECQL4

Linked Data

• MyVariant Identifiers: chr8:g.145737294T>A (hg19) ; chr8:g.144511911T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511911T>A , CM000670.2:g.144511911T>A	GRCh38
NC_000008.10:g.145737294T>A , CM000670.1:g.145737294T>A	GRCh37
NC_000008.9:g.145708102T>A	NCBI36
NG_016430.1:g.10916A>T
NG_016430.2:g.10916A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393A>T MANE Select	ENSP00000482313.2:p.Arg1131Ser
ENST00000301323.7:c.410A>T
ENST00000529424.2:n.50-122A>T
ENST00000531875.2:c.639A>T	ENSP00000477910.1:p.Arg213Ser
ENST00000617875.4:c.3393A>T	ENSP00000482313.1:p.Arg1131Ser
ENST00000621189.4:c.2322A>T	ENSP00000483145.1:p.Arg774Ser
NM_004260.3:c.3393A>T	NP_004251.3:p.Arg1131Ser
XM_011517380.1:c.3468A>T	XP_011515682.1:p.Arg1156Ser
XM_011517381.1:c.3372A>T	XP_011515683.1:p.Arg1124Ser
XM_011517382.1:c.3276A>T	XP_011515684.1:p.Arg1092Ser
XM_011517383.1:c.3270A>T	XP_011515685.1:p.Arg1090Ser
XM_011517384.1:c.3195A>T	XP_011515686.1:p.Arg1065Ser
XM_011517385.1:c.2331A>T	XP_011515687.1:p.Arg777Ser
XR_928366.1:n.3353-122A>T
XR_928367.1:n.3448A>T
XR_928368.1:n.3341A>T
XM_011517384.3:c.3195A>T	XP_011515686.1:p.Arg1065Ser
XM_017013991.2:c.3558A>T	XP_016869480.1:p.Arg1186Ser
XM_017013992.2:c.3483A>T	XP_016869481.1:p.Arg1161Ser
XM_017013993.2:c.3468A>T	XP_016869482.1:p.Arg1156Ser
XM_017013994.2:c.3462A>T	XP_016869483.1:p.Arg1154Ser
XM_017013995.2:c.3393A>T	XP_016869484.1:p.Arg1131Ser
XM_017013996.2:c.3558A>T	XP_016869485.1:p.Arg1186Ser
XM_017013997.2:c.3360A>T	XP_016869486.1:p.Arg1120Ser
XM_017013998.1:c.3483A>T	XP_016869487.1:p.Arg1161Ser
XM_017013999.2:c.3270A>T	XP_016869488.1:p.Arg1090Ser
XM_017014000.1:c.2421A>T	XP_016869489.1:p.Arg807Ser
XM_017014001.2:c.2331A>T	XP_016869490.1:p.Arg777Ser
XR_001745626.2:n.3439-122A>T
XR_001745627.2:n.3534A>T
XR_001745628.2:n.3425A>T
XR_001745629.2:n.3288A>T
XR_001745630.2:n.3090A>T
NM_004260.4:c.3393A>T MANE Select	NP_004251.4:p.Arg1131Ser