Canonical Allele Identifier: CA460225123

Gene: WRN

Linked Data

• ClinVar Variation Id: 1622117
• ClinVar RCV Id: RCV002106048
• dbSNP Id: rs2130469660
• MyVariant Identifiers: chr8:g.31012142A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31154626A>T , CM000670.2:g.31154626A>T	GRCh38
NC_000008.10:g.31012142A>T , CM000670.1:g.31012142A>T	GRCh37
NC_000008.9:g.31131684A>T	NCBI36
NG_008870.1:g.126365A>T , LRG_524:g.126365A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3690A>T MANE Select	ENSP00000298139.5:p.Thr1230=
ENST00000650667.1:c.*3304A>T	ENSP00000498593.1:n.*3304A>T
ENST00000298139.5:c.3690A>T	ENSP00000298139.5:p.Thr1230=
ENST00000521620.5:n.2323A>T
NM_000553.4:c.3690A>T , LRG_524t1:c.3690A>T	NP_000544.2:p.Thr1230=
XM_011544639.1:c.3609A>T	XP_011542941.1:p.Thr1203=
XM_011544640.1:c.2091A>T	XP_011542942.1:p.Thr697=
XR_949470.1:n.3963A>T
XR_949471.1:n.3963A>T
XR_949472.1:n.3963A>T
XR_949643.1:n.457-5961T>A
XR_949644.1:n.381-5961T>A
XR_949647.1:n.1070-5961T>A
XR_949648.1:n.972-5961T>A
NM_000553.5:c.3690A>T	NP_000544.2:p.Thr1230=
XM_011544639.3:c.3609A>T	XP_011542941.1:p.Thr1203=
XM_024447265.1:c.3480A>T	XP_024303033.1:p.Thr1160=
XR_949470.3:n.3991A>T
XR_949471.3:n.3991A>T
XR_949472.3:n.3991A>T
NM_000553.6:c.3690A>T MANE Select	NP_000544.2:p.Thr1230=