Canonical Allele Identifier: CA4948790

Gene: RECQL4

Linked Data

• dbSNP Id: rs763278718
• ExAC: 8:145740346 G / C
• gnomAD v2: 8-145740346-G-C
• gnomAD v4: 8-144514962-G-C
• MyVariant Identifiers: chr8:g.145740346G>C (hg19) ; chr8:g.144514962G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144514962G>C , CM000670.2:g.144514962G>C	GRCh38
NC_000008.10:g.145740346G>C , CM000670.1:g.145740346G>C	GRCh37
NC_000008.9:g.145711154G>C	NCBI36
NG_016430.1:g.7865C>G
NG_033083.1:g.1998G>C
NG_016430.2:g.7865C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.617C>G
ENST00000617875.6:c.1594C>G MANE Select	ENSP00000482313.2:p.Pro532Ala
ENST00000532846.2:c.449C>G
ENST00000617875.4:c.1594C>G	ENSP00000482313.1:p.Pro532Ala
ENST00000621189.4:c.523C>G	ENSP00000483145.1:p.Pro175Ala
NM_004260.3:c.1594C>G	NP_004251.3:p.Pro532Ala
XM_011517380.1:c.1594C>G	XP_011515682.1:p.Pro532Ala
XM_011517381.1:c.1498C>G	XP_011515683.1:p.Pro500Ala
XM_011517382.1:c.1594C>G	XP_011515684.1:p.Pro532Ala
XM_011517383.1:c.1594C>G	XP_011515685.1:p.Pro532Ala
XM_011517384.1:c.1594C>G	XP_011515686.1:p.Pro532Ala
XM_011517385.1:c.457C>G	XP_011515687.1:p.Pro153Ala
XR_928366.1:n.1635C>G
XR_928367.1:n.1635C>G
XR_928368.1:n.1637C>G
XM_011517384.3:c.1594C>G	XP_011515686.1:p.Pro532Ala
XM_017013991.2:c.1594C>G	XP_016869480.1:p.Pro532Ala
XM_017013992.2:c.1594C>G	XP_016869481.1:p.Pro532Ala
XM_017013993.2:c.1594C>G	XP_016869482.1:p.Pro532Ala
XM_017013994.2:c.1498C>G	XP_016869483.1:p.Pro500Ala
XM_017013995.2:c.1594C>G	XP_016869484.1:p.Pro532Ala
XM_017013996.2:c.1594C>G	XP_016869485.1:p.Pro532Ala
XM_017013997.2:c.1594C>G	XP_016869486.1:p.Pro532Ala
XM_017013998.1:c.1594C>G	XP_016869487.1:p.Pro532Ala
XM_017013999.2:c.1594C>G	XP_016869488.1:p.Pro532Ala
XM_017014000.1:c.457C>G	XP_016869489.1:p.Pro153Ala
XM_017014001.2:c.457C>G	XP_016869490.1:p.Pro153Ala
XR_001745626.2:n.1631C>G
XR_001745627.2:n.1631C>G
XR_001745628.2:n.1631C>G
XR_001745629.2:n.1631C>G
XR_001745630.2:n.1631C>G
NM_004260.4:c.1594C>G MANE Select	NP_004251.4:p.Pro532Ala