Canonical Allele Identifier: CA460225127

Gene: WRN

Linked Data

• gnomAD v4: 8-31154632-C-T
• COSMIC: COSM5595569
• MyVariant Identifiers: chr8:g.31012148C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31154632C>T , CM000670.2:g.31154632C>T	GRCh38
NC_000008.10:g.31012148C>T , CM000670.1:g.31012148C>T	GRCh37
NC_000008.9:g.31131690C>T	NCBI36
NG_008870.1:g.126371C>T , LRG_524:g.126371C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3696C>T MANE Select	ENSP00000298139.5:p.Leu1232=
ENST00000650667.1:c.*3310C>T	ENSP00000498593.1:n.*3310C>T
ENST00000298139.5:c.3696C>T	ENSP00000298139.5:p.Leu1232=
ENST00000521620.5:n.2329C>T
NM_000553.4:c.3696C>T , LRG_524t1:c.3696C>T	NP_000544.2:p.Leu1232=
XM_011544639.1:c.3615C>T	XP_011542941.1:p.Leu1205=
XM_011544640.1:c.2097C>T	XP_011542942.1:p.Leu699=
XR_949470.1:n.3969C>T
XR_949471.1:n.3969C>T
XR_949472.1:n.3969C>T
XR_949643.1:n.457-5967G>A
XR_949644.1:n.381-5967G>A
XR_949647.1:n.1070-5967G>A
XR_949648.1:n.972-5967G>A
NM_000553.5:c.3696C>T	NP_000544.2:p.Leu1232=
XM_011544639.3:c.3615C>T	XP_011542941.1:p.Leu1205=
XM_024447265.1:c.3486C>T	XP_024303033.1:p.Leu1162=
XR_949470.3:n.3997C>T
XR_949471.3:n.3997C>T
XR_949472.3:n.3997C>T
NM_000553.6:c.3696C>T MANE Select	NP_000544.2:p.Leu1232=