Canonical Allele Identifier: CA463566015

Gene: RECQL4

Linked Data

• MyVariant Identifiers: chr8:g.145737426G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144512043G>C , CM000670.2:g.144512043G>C	GRCh38
NC_000008.10:g.145737426G>C , CM000670.1:g.145737426G>C	GRCh37
NC_000008.9:g.145708234G>C	NCBI36
NG_016430.1:g.10784C>G
NG_016430.2:g.10784C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3261C>G MANE Select	ENSP00000482313.2:p.Pro1087=
ENST00000301323.7:c.278C>G
ENST00000529424.2:n.50-254C>G
ENST00000531875.2:c.507C>G	ENSP00000477910.1:p.Pro169=
ENST00000617875.4:c.3261C>G	ENSP00000482313.1:p.Pro1087=
ENST00000621189.4:c.2190C>G	ENSP00000483145.1:p.Pro730=
NM_004260.3:c.3261C>G	NP_004251.3:p.Pro1087=
XM_011517380.1:c.3336C>G	XP_011515682.1:p.Pro1112=
XM_011517381.1:c.3240C>G	XP_011515683.1:p.Pro1080=
XM_011517382.1:c.3144C>G	XP_011515684.1:p.Pro1048=
XM_011517383.1:c.3138C>G	XP_011515685.1:p.Pro1046=
XM_011517384.1:c.3063C>G	XP_011515686.1:p.Pro1021=
XM_011517385.1:c.2199C>G	XP_011515687.1:p.Pro733=
XR_928366.1:n.3352+101C>G
XR_928367.1:n.3316C>G
XR_928368.1:n.3209C>G
XM_011517384.3:c.3063C>G	XP_011515686.1:p.Pro1021=
XM_017013991.2:c.3426C>G	XP_016869480.1:p.Pro1142=
XM_017013992.2:c.3351C>G	XP_016869481.1:p.Pro1117=
XM_017013993.2:c.3336C>G	XP_016869482.1:p.Pro1112=
XM_017013994.2:c.3330C>G	XP_016869483.1:p.Pro1110=
XM_017013995.2:c.3261C>G	XP_016869484.1:p.Pro1087=
XM_017013996.2:c.3426C>G	XP_016869485.1:p.Pro1142=
XM_017013997.2:c.3228C>G	XP_016869486.1:p.Pro1076=
XM_017013998.1:c.3351C>G	XP_016869487.1:p.Pro1117=
XM_017013999.2:c.3138C>G	XP_016869488.1:p.Pro1046=
XM_017014000.1:c.2289C>G	XP_016869489.1:p.Pro763=
XM_017014001.2:c.2199C>G	XP_016869490.1:p.Pro733=
XR_001745626.2:n.3438+101C>G
XR_001745627.2:n.3402C>G
XR_001745628.2:n.3293C>G
XR_001745629.2:n.3156C>G
XR_001745630.2:n.2958C>G
NM_004260.4:c.3261C>G MANE Select	NP_004251.4:p.Pro1087=