Canonical Allele Identifier: CA460488523

Gene: WRN

Linked Data

• ClinVar Variation Id: 2819114
• ClinVar RCV Id: RCV003613755
• MyVariant Identifiers: chr8:g.30999286G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141770G>C , CM000670.2:g.31141770G>C	GRCh38
NC_000008.10:g.30999286G>C , CM000670.1:g.30999286G>C	GRCh37
NC_000008.9:g.31118828G>C	NCBI36
NG_008870.1:g.113509G>C , LRG_524:g.113509G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3228G>C MANE Select	ENSP00000298139.5:p.Leu1076=
ENST00000650667.1:c.*2842G>C	ENSP00000498593.1:n.*2842G>C
ENST00000298139.5:c.3228G>C	ENSP00000298139.5:p.Leu1076=
ENST00000521620.5:n.1861G>C
NM_000553.4:c.3228G>C , LRG_524t1:c.3228G>C	NP_000544.2:p.Leu1076=
XM_011544639.1:c.3147G>C	XP_011542941.1:p.Leu1049=
XM_011544640.1:c.1629G>C	XP_011542942.1:p.Leu543=
XR_949470.1:n.3501G>C
XR_949471.1:n.3501G>C
XR_949472.1:n.3501G>C
NM_000553.5:c.3228G>C	NP_000544.2:p.Leu1076=
XM_011544639.3:c.3147G>C	XP_011542941.1:p.Leu1049=
XM_024447265.1:c.3018G>C	XP_024303033.1:p.Leu1006=
XR_949470.3:n.3529G>C
XR_949471.3:n.3529G>C
XR_949472.3:n.3529G>C
NM_000553.6:c.3228G>C MANE Select	NP_000544.2:p.Leu1076=