Canonical Allele Identifier: CA4704486

Gene: WRN

Linked Data

• ClinVar Variation Id: 238130
• ClinVar RCV Id: RCV000234497 ; RCV001563125 ; RCV001818574 ; RCV003316246
• dbSNP Id: rs13438803
• ExAC: 8:30948417 T / C
• gnomAD v2: 8-30948417-T-C
• gnomAD v3: 8-31090901-T-C
• gnomAD v4: 8-31090901-T-C
• MyVariant Identifiers: chr8:g.30948417T>C (hg19) ; chr8:g.31090901T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31090901T>C , CM000670.2:g.31090901T>C	GRCh38
NC_000008.10:g.30948417T>C , CM000670.1:g.30948417T>C	GRCh37
NC_000008.9:g.31067959T>C	NCBI36
NG_008870.1:g.62640T>C , LRG_524:g.62640T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.1788T>C MANE Select	ENSP00000298139.5:p.Ser596=
ENST00000650667.1:c.*1402T>C	ENSP00000498593.1:n.*1402T>C
ENST00000298139.5:c.1788T>C	ENSP00000298139.5:p.Ser596=
ENST00000521620.5:n.421T>C
NM_000553.4:c.1788T>C , LRG_524t1:c.1788T>C	NP_000544.2:p.Ser596=
XM_011544639.1:c.1707T>C	XP_011542941.1:p.Ser569=
XM_011544640.1:c.189T>C	XP_011542942.1:p.Ser63=
XR_949470.1:n.2061T>C
XR_949471.1:n.2061T>C
XR_949472.1:n.2061T>C
NM_000553.5:c.1788T>C	NP_000544.2:p.Ser596=
XM_011544639.3:c.1707T>C	XP_011542941.1:p.Ser569=
XM_024447265.1:c.1578T>C	XP_024303033.1:p.Ser526=
XR_949470.3:n.2089T>C
XR_949471.3:n.2089T>C
XR_949472.3:n.2089T>C
NM_000553.6:c.1788T>C MANE Select	NP_000544.2:p.Ser596=