Canonical Allele Identifier: CA2718425515

Gene: RECQL4

Linked Data

• dbSNP Id: rs751187872

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511835T>C , CM000670.2:g.144511835T>C	GRCh38
NC_000008.10:g.145737218T>C , CM000670.1:g.145737218T>C	GRCh37
NC_000008.9:g.145708026T>C	NCBI36
NG_016430.1:g.10992A>G
NG_016430.2:g.10992A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3394-46A>G MANE Select	ENSP00000482313.2:n.3394-46A>G
ENST00000301323.7:c.411-46A>G
ENST00000529424.2:n.50-46A>G
ENST00000531875.2:c.649-46A>G	ENSP00000477910.1:n.649-46A>G
ENST00000617875.4:c.3394-46A>G	ENSP00000482313.1:n.3394-46A>G
ENST00000621189.4:c.2323-46A>G	ENSP00000483145.1:n.2323-46A>G
NM_004260.3:c.3394-46A>G	NP_004251.3:n.3394-46A>G
XM_011517380.1:c.3469-46A>G	XP_011515682.1:n.3469-46A>G
XM_011517381.1:c.3373-46A>G	XP_011515683.1:n.3373-46A>G
XM_011517382.1:c.3277-46A>G	XP_011515684.1:n.3277-46A>G
XM_011517383.1:c.3271-46A>G	XP_011515685.1:n.3271-46A>G
XM_011517384.1:c.3196-46A>G	XP_011515686.1:n.3196-46A>G
XM_011517385.1:c.2332-46A>G	XP_011515687.1:n.2332-46A>G
XR_928366.1:n.3353-46A>G
XR_928367.1:n.3449-46A>G
XR_928368.1:n.3342-46A>G
XM_011517384.3:c.3196-46A>G	XP_011515686.1:n.3196-46A>G
XM_017013991.2:c.3634A>G	XP_016869480.1:p.Ser1212Gly
XM_017013992.2:c.3559A>G	XP_016869481.1:p.Ser1187Gly
XM_017013993.2:c.3544A>G	XP_016869482.1:p.Ser1182Gly
XM_017013994.2:c.3538A>G	XP_016869483.1:p.Ser1180Gly
XM_017013995.2:c.3469A>G	XP_016869484.1:p.Ser1157Gly
XM_017013996.2:c.3559-46A>G	XP_016869485.1:n.3559-46A>G
XM_017013997.2:c.3436A>G	XP_016869486.1:p.Ser1146Gly
XM_017013998.1:c.3484-46A>G	XP_016869487.1:n.3484-46A>G
XM_017013999.2:c.3346A>G	XP_016869488.1:p.Ser1116Gly
XM_017014000.1:c.2497A>G	XP_016869489.1:p.Ser833Gly
XM_017014001.2:c.2407A>G	XP_016869490.1:p.Ser803Gly
XR_001745626.2:n.3439-46A>G
XR_001745627.2:n.3535-46A>G
XR_001745628.2:n.3426-46A>G
XR_001745629.2:n.3289-46A>G
XR_001745630.2:n.3091-46A>G
NM_004260.4:c.3394-46A>G MANE Select	NP_004251.4:n.3394-46A>G