Canonical Allele Identifier: CA4948486

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144513728T>C , CM000670.2:g.144513728T>C	GRCh38
NC_000008.10:g.145739112T>C , CM000670.1:g.145739112T>C	GRCh37
NC_000008.9:g.145709920T>C	NCBI36
NG_016430.1:g.9099A>G
NG_033083.1:g.764T>C
NG_016430.2:g.9099A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004260.4:c.2059-16A>G MANE Select	NP_004251.4:n.2059-16A>G
ENST00000617875.6:c.2059-16A>G MANE Select	ENSP00000482313.2:n.2059-16A>G
NM_004260.3:c.2059-16A>G	NP_004251.3:n.2059-16A>G
ENST00000532846.2:c.914-16A>G
ENST00000534626.6:c.428-16A>G
ENST00000617875.4:c.2059-16A>G	ENSP00000482313.1:n.2059-16A>G
ENST00000621189.4:c.988-16A>G	ENSP00000483145.1:n.988-16A>G
XM_011517380.1:c.2059-16A>G	XP_011515682.1:n.2059-16A>G
XM_011517381.1:c.1963-16A>G	XP_011515683.1:n.1963-16A>G
XM_011517382.1:c.2059-16A>G	XP_011515684.1:n.2059-16A>G
XM_011517383.1:c.2059-16A>G	XP_011515685.1:n.2059-16A>G
XM_011517384.1:c.2059-16A>G	XP_011515686.1:n.2059-16A>G
XM_011517384.3:c.2059-16A>G	XP_011515686.1:n.2059-16A>G
XM_011517385.1:c.922-16A>G	XP_011515687.1:n.922-16A>G
XM_017013991.2:c.2059-16A>G	XP_016869480.1:n.2059-16A>G
XM_017013992.2:c.2059-16A>G	XP_016869481.1:n.2059-16A>G
XM_017013993.2:c.2059-16A>G	XP_016869482.1:n.2059-16A>G
XM_017013994.2:c.1963-16A>G	XP_016869483.1:n.1963-16A>G
XM_017013995.2:c.2059-16A>G	XP_016869484.1:n.2059-16A>G
XM_017013996.2:c.2059-16A>G	XP_016869485.1:n.2059-16A>G
XM_017013997.2:c.2059-16A>G	XP_016869486.1:n.2059-16A>G
XM_017013998.1:c.2059-16A>G	XP_016869487.1:n.2059-16A>G
XM_017013999.2:c.2059-16A>G	XP_016869488.1:n.2059-16A>G
XM_017014000.1:c.922-16A>G	XP_016869489.1:n.922-16A>G
XM_017014001.2:c.922-16A>G	XP_016869490.1:n.922-16A>G
XR_001745626.2:n.2096-16A>G
XR_001745627.2:n.2096-16A>G
XR_001745628.2:n.2096-16A>G
XR_001745629.2:n.2095+200A>G
XR_001745630.2:n.2095+200A>G
XR_928366.1:n.2100-16A>G
XR_928367.1:n.2100-16A>G
XR_928368.1:n.2102-16A>G