Canonical Allele Identifier: CA372677359

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144513097G>C , CM000670.2:g.144513097G>C	GRCh38
NC_000008.10:g.145738480G>C , CM000670.1:g.145738480G>C	GRCh37
NC_000008.9:g.145709288G>C	NCBI36
NG_016430.1:g.9730C>G
NG_033083.1:g.132G>C
NG_016430.2:g.9730C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004260.4:c.2505C>G MANE Select	NP_004251.4:p.Asp835Glu
ENST00000617875.6:c.2505C>G MANE Select	ENSP00000482313.2:p.Asp835Glu
NM_004260.3:c.2505C>G	NP_004251.3:p.Asp835Glu
ENST00000534626.6:c.676C>G
ENST00000617875.4:c.2505C>G	ENSP00000482313.1:p.Asp835Glu
ENST00000621189.4:c.1434C>G	ENSP00000483145.1:p.Asp478Glu
XM_011517380.1:c.2505C>G	XP_011515682.1:p.Asp835Glu
XM_011517381.1:c.2409C>G	XP_011515683.1:p.Asp803Glu
XM_011517382.1:c.2313C>G	XP_011515684.1:p.Asp771Glu
XM_011517383.1:c.2307C>G	XP_011515685.1:p.Asp769Glu
XM_011517384.1:c.2307C>G	XP_011515686.1:p.Asp769Glu
XM_011517384.3:c.2307C>G	XP_011515686.1:p.Asp769Glu
XM_011517385.1:c.1368C>G	XP_011515687.1:p.Asp456Glu
XM_017013991.2:c.2595C>G	XP_016869480.1:p.Asp865Glu
XM_017013992.2:c.2595C>G	XP_016869481.1:p.Asp865Glu
XM_017013993.2:c.2505C>G	XP_016869482.1:p.Asp835Glu
XM_017013994.2:c.2499C>G	XP_016869483.1:p.Asp833Glu
XM_017013995.2:c.2505C>G	XP_016869484.1:p.Asp835Glu
XM_017013996.2:c.2595C>G	XP_016869485.1:p.Asp865Glu
XM_017013997.2:c.2397C>G	XP_016869486.1:p.Asp799Glu
XM_017013998.1:c.2595C>G	XP_016869487.1:p.Asp865Glu
XM_017013999.2:c.2307C>G	XP_016869488.1:p.Asp769Glu
XM_017014000.1:c.1458C>G	XP_016869489.1:p.Asp486Glu
XM_017014001.2:c.1368C>G	XP_016869490.1:p.Asp456Glu
XR_001745626.2:n.2632C>G
XR_001745627.2:n.2632C>G
XR_001745628.2:n.2632C>G
XR_001745629.2:n.2400C>G
XR_001745630.2:n.2202C>G
XR_928366.1:n.2546C>G
XR_928367.1:n.2546C>G
XR_928368.1:n.2548C>G