Canonical Allele Identifier: CA1826365525

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511998G= , CM000670.2:g.144511998G=	GRCh38
NC_000008.10:g.145737381G= , CM000670.1:g.145737381G=	GRCh37
NC_000008.9:g.145708189G=	NCBI36
NG_016430.1:g.10829C=
NG_016430.2:g.10829C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3306C= MANE Select	ENSP00000482313.2:p.Asp1102=
ENST00000301323.7:c.323C=
ENST00000529424.2:n.50-209C=
ENST00000531875.2:c.552C=	ENSP00000477910.1:p.Asp184=
ENST00000617875.4:c.3306C=	ENSP00000482313.1:p.Asp1102=
ENST00000621189.4:c.2235C=	ENSP00000483145.1:p.Asp745=
NM_004260.3:c.3306C=	NP_004251.3:p.Asp1102=
XM_011517380.1:c.3381C=	XP_011515682.1:p.Asp1127=
XM_011517381.1:c.3285C=	XP_011515683.1:p.Asp1095=
XM_011517382.1:c.3189C=	XP_011515684.1:p.Asp1063=
XM_011517383.1:c.3183C=	XP_011515685.1:p.Asp1061=
XM_011517384.1:c.3108C=	XP_011515686.1:p.Asp1036=
XM_011517385.1:c.2244C=	XP_011515687.1:p.Asp748=
XR_928366.1:n.3352+146C=
XR_928367.1:n.3361C=
XR_928368.1:n.3254C=
XM_011517384.3:c.3108C=	XP_011515686.1:p.Asp1036=
XM_017013991.2:c.3471C=	XP_016869480.1:p.Asp1157=
XM_017013992.2:c.3396C=	XP_016869481.1:p.Asp1132=
XM_017013993.2:c.3381C=	XP_016869482.1:p.Asp1127=
XM_017013994.2:c.3375C=	XP_016869483.1:p.Asp1125=
XM_017013995.2:c.3306C=	XP_016869484.1:p.Asp1102=
XM_017013996.2:c.3471C=	XP_016869485.1:p.Asp1157=
XM_017013997.2:c.3273C=	XP_016869486.1:p.Asp1091=
XM_017013998.1:c.3396C=	XP_016869487.1:p.Asp1132=
XM_017013999.2:c.3183C=	XP_016869488.1:p.Asp1061=
XM_017014000.1:c.2334C=	XP_016869489.1:p.Asp778=
XM_017014001.2:c.2244C=	XP_016869490.1:p.Asp748=
XR_001745626.2:n.3438+146C=
XR_001745627.2:n.3447C=
XR_001745628.2:n.3338C=
XR_001745629.2:n.3201C=
XR_001745630.2:n.3003C=
NM_004260.4:c.3306C= MANE Select	NP_004251.4:p.Asp1102=