Canonical Allele Identifier: CA372687715

Gene: RECQL4

Linked Data

• dbSNP Id: rs2130713435
• MyVariant Identifiers: chr8:g.145741239A>T (hg19) ; chr8:g.144515855A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515855A>T , CM000670.2:g.144515855A>T	GRCh38
NC_000008.10:g.145741239A>T , CM000670.1:g.145741239A>T	GRCh37
NC_000008.9:g.145712047A>T	NCBI36
NG_016430.1:g.6972T>A
NG_033083.1:g.2891A>T
NG_016430.2:g.6972T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.1167T>A MANE Select	ENSP00000482313.2:p.Cys389Ter
ENST00000532846.2:c.52T>A
ENST00000617875.4:c.1167T>A	ENSP00000482313.1:p.Cys389Ter
ENST00000621189.4:c.96T>A	ENSP00000483145.1:p.Cys32Ter
NM_004260.3:c.1167T>A	NP_004251.3:p.Cys389Ter
XM_011517380.1:c.1167T>A	XP_011515682.1:p.Cys389Ter
XM_011517381.1:c.1071T>A	XP_011515683.1:p.Cys357Ter
XM_011517382.1:c.1167T>A	XP_011515684.1:p.Cys389Ter
XM_011517383.1:c.1167T>A	XP_011515685.1:p.Cys389Ter
XM_011517384.1:c.1167T>A	XP_011515686.1:p.Cys389Ter
XM_011517385.1:c.34T>A	XP_011515687.1:p.Phe12Ile
XR_928366.1:n.1208T>A
XR_928367.1:n.1208T>A
XR_928368.1:n.1210T>A
XM_011517384.3:c.1167T>A	XP_011515686.1:p.Cys389Ter
XM_017013991.2:c.1167T>A	XP_016869480.1:p.Cys389Ter
XM_017013992.2:c.1167T>A	XP_016869481.1:p.Cys389Ter
XM_017013993.2:c.1167T>A	XP_016869482.1:p.Cys389Ter
XM_017013994.2:c.1071T>A	XP_016869483.1:p.Cys357Ter
XM_017013995.2:c.1167T>A	XP_016869484.1:p.Cys389Ter
XM_017013996.2:c.1167T>A	XP_016869485.1:p.Cys389Ter
XM_017013997.2:c.1167T>A	XP_016869486.1:p.Cys389Ter
XM_017013998.1:c.1167T>A	XP_016869487.1:p.Cys389Ter
XM_017013999.2:c.1167T>A	XP_016869488.1:p.Cys389Ter
XM_017014000.1:c.34T>A	XP_016869489.1:p.Phe12Ile
XM_017014001.2:c.34T>A	XP_016869490.1:p.Phe12Ile
XR_001745626.2:n.1204T>A
XR_001745627.2:n.1204T>A
XR_001745628.2:n.1204T>A
XR_001745629.2:n.1204T>A
XR_001745630.2:n.1204T>A
NM_004260.4:c.1167T>A MANE Select	NP_004251.4:p.Cys389Ter