Canonical Allele Identifier: CA4948128

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144512859T>C , CM000670.2:g.144512859T>C	GRCh38
NC_000008.10:g.145738242T>C , CM000670.1:g.145738242T>C	GRCh37
NC_000008.9:g.145709050T>C	NCBI36
NG_016430.1:g.9968A>G
NG_016430.2:g.9968A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.2743A>G MANE Select	ENSP00000482313.2:p.Met915Val
ENST00000534626.6:c.914A>G
ENST00000617875.4:c.2743A>G	ENSP00000482313.1:p.Met915Val
ENST00000621189.4:c.1672A>G	ENSP00000483145.1:p.Met558Val
NM_004260.3:c.2743A>G	NP_004251.3:p.Met915Val
XM_011517380.1:c.2743A>G	XP_011515682.1:p.Met915Val
XM_011517381.1:c.2647A>G	XP_011515683.1:p.Met883Val
XM_011517382.1:c.2551A>G	XP_011515684.1:p.Met851Val
XM_011517383.1:c.2545A>G	XP_011515685.1:p.Met849Val
XM_011517384.1:c.2545A>G	XP_011515686.1:p.Met849Val
XM_011517385.1:c.1606A>G	XP_011515687.1:p.Met536Val
XR_928366.1:n.2784A>G
XR_928367.1:n.2784A>G
XR_928368.1:n.2786A>G
XM_011517384.3:c.2545A>G	XP_011515686.1:p.Met849Val
XM_017013991.2:c.2833A>G	XP_016869480.1:p.Met945Val
XM_017013992.2:c.2833A>G	XP_016869481.1:p.Met945Val
XM_017013993.2:c.2743A>G	XP_016869482.1:p.Met915Val
XM_017013994.2:c.2737A>G	XP_016869483.1:p.Met913Val
XM_017013995.2:c.2743A>G	XP_016869484.1:p.Met915Val
XM_017013996.2:c.2833A>G	XP_016869485.1:p.Met945Val
XM_017013997.2:c.2635A>G	XP_016869486.1:p.Met879Val
XM_017013998.1:c.2833A>G	XP_016869487.1:p.Met945Val
XM_017013999.2:c.2545A>G	XP_016869488.1:p.Met849Val
XM_017014000.1:c.1696A>G	XP_016869489.1:p.Met566Val
XM_017014001.2:c.1606A>G	XP_016869490.1:p.Met536Val
XR_001745626.2:n.2870A>G
XR_001745627.2:n.2870A>G
XR_001745628.2:n.2870A>G
XR_001745629.2:n.2638A>G
XR_001745630.2:n.2440A>G
NM_004260.4:c.2743A>G MANE Select	NP_004251.4:p.Met915Val