Canonical Allele Identifier: CA460488432

Gene: WRN

Linked Data

• ClinVar Variation Id: 1104113
• ClinVar RCV Id: RCV001428048
• dbSNP Id: rs2130416206
• gnomAD v4: 8-31141588-C-G
• MyVariant Identifiers: chr8:g.30999104C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141588C>G , CM000670.2:g.31141588C>G	GRCh38
NC_000008.10:g.30999104C>G , CM000670.1:g.30999104C>G	GRCh37
NC_000008.9:g.31118646C>G	NCBI36
NG_008870.1:g.113327C>G , LRG_524:g.113327C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3126C>G MANE Select	ENSP00000298139.5:p.Ala1042=
ENST00000650667.1:c.*2740C>G	ENSP00000498593.1:n.*2740C>G
ENST00000298139.5:c.3126C>G	ENSP00000298139.5:p.Ala1042=
ENST00000521620.5:n.1759C>G
NM_000553.4:c.3126C>G , LRG_524t1:c.3126C>G	NP_000544.2:p.Ala1042=
XM_011544639.1:c.3045C>G	XP_011542941.1:p.Ala1015=
XM_011544640.1:c.1527C>G	XP_011542942.1:p.Ala509=
XR_949470.1:n.3399C>G
XR_949471.1:n.3399C>G
XR_949472.1:n.3399C>G
NM_000553.5:c.3126C>G	NP_000544.2:p.Ala1042=
XM_011544639.3:c.3045C>G	XP_011542941.1:p.Ala1015=
XM_024447265.1:c.2916C>G	XP_024303033.1:p.Ala972=
XR_949470.3:n.3427C>G
XR_949471.3:n.3427C>G
XR_949472.3:n.3427C>G
NM_000553.6:c.3126C>G MANE Select	NP_000544.2:p.Ala1042=