Canonical Allele Identifier: CA253758

Gene: RECQL4

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144512326T>G , CM000670.2:g.144512326T>G	GRCh38
NC_000008.10:g.145737709T>G , CM000670.1:g.145737709T>G	GRCh37
NC_000008.9:g.145708517T>G	NCBI36
NG_016430.1:g.10501A>C
NG_016430.2:g.10501A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3056-2A>C MANE Select	ENSP00000482313.2:n.3056-2A>C
ENST00000301323.7:c.73-2A>C
ENST00000529424.2:n.48A>C
ENST00000531875.2:c.302-2A>C	ENSP00000477910.1:n.302-2A>C
ENST00000617875.4:c.3056-2A>C	ENSP00000482313.1:n.3056-2A>C
ENST00000621189.4:c.1985-2A>C	ENSP00000483145.1:n.1985-2A>C
NM_004260.3:c.3056-2A>C	NP_004251.3:n.3056-2A>C
XM_011517380.1:c.3131-2A>C	XP_011515682.1:n.3131-2A>C
XM_011517381.1:c.3035-2A>C	XP_011515683.1:n.3035-2A>C
XM_011517382.1:c.2939-2A>C	XP_011515684.1:n.2939-2A>C
XM_011517383.1:c.2933-2A>C	XP_011515685.1:n.2933-2A>C
XM_011517384.1:c.2858-2A>C	XP_011515686.1:n.2858-2A>C
XM_011517385.1:c.1994-2A>C	XP_011515687.1:n.1994-2A>C
XR_928366.1:n.3172-2A>C
XR_928367.1:n.3172-63A>C
XR_928368.1:n.3004-2A>C
XM_011517384.3:c.2858-2A>C	XP_011515686.1:n.2858-2A>C
XM_017013991.2:c.3221-2A>C	XP_016869480.1:n.3221-2A>C
XM_017013992.2:c.3146-2A>C	XP_016869481.1:n.3146-2A>C
XM_017013993.2:c.3131-2A>C	XP_016869482.1:n.3131-2A>C
XM_017013994.2:c.3125-2A>C	XP_016869483.1:n.3125-2A>C
XM_017013995.2:c.3056-2A>C	XP_016869484.1:n.3056-2A>C
XM_017013996.2:c.3221-2A>C	XP_016869485.1:n.3221-2A>C
XM_017013997.2:c.3023-2A>C	XP_016869486.1:n.3023-2A>C
XM_017013998.1:c.3146-2A>C	XP_016869487.1:n.3146-2A>C
XM_017013999.2:c.2933-2A>C	XP_016869488.1:n.2933-2A>C
XM_017014000.1:c.2084-2A>C	XP_016869489.1:n.2084-2A>C
XM_017014001.2:c.1994-2A>C	XP_016869490.1:n.1994-2A>C
XR_001745626.2:n.3258-2A>C
XR_001745627.2:n.3258-63A>C
XR_001745628.2:n.3088-2A>C
XR_001745629.2:n.2951-2A>C
XR_001745630.2:n.2753-2A>C
NM_004260.4:c.3056-2A>C MANE Select	NP_004251.4:n.3056-2A>C