Canonical Allele Identifier: CA4704039
Gene: WRN HGNC NCBI
ClinVar RCV:
RCV000233017
RCV000597305
RCV001818577
ClinVar Variation:
238158
dbSNP:
145764920
gnomAD v2:
8:30921954 G / C
gnomAD v3:
8:31064438 G / C
gnomAD v4:
chr8-31064438-G-C
Joint Max Group AF 0.00267653 (NFE)
Genomes Max Group AF 0.00235882 (NFE)
Exomes Max Group AF 0.00267924 (NFE)
MyVariant.info:
GRCh38 chr8:g.31064438G>C
GRCh37 chr8:g.30921954G>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31064438G>C , CM000670.2:g.31064438G>C GRCh38
NC_000008.10:g.30921954G>C , CM000670.1:g.30921954G>C GRCh37
NC_000008.9:g.31041496G>C NCBI36
NG_008870.1:g.36177G>C , LRG_524:g.36177G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.355+4G>C MANE Select ENSP00000298139.5:n.355+4G>C
ENST00000650667.1:c.210-477G>C ENSP00000498593.1:n.210-477G>C
ENST00000298139.5:c.355+4G>C ENSP00000298139.5:n.355+4G>C
NM_000553.4:c.355+4G>C , LRG_524t1:c.355+4G>C NP_000544.2:n.355+4G>C
XM_011544639.1:c.355+4G>C XP_011542941.1:n.355+4G>C
XR_949470.1:n.628+4G>C
XR_949471.1:n.628+4G>C
XR_949472.1:n.628+4G>C
NM_000553.5:c.355+4G>C NP_000544.2:n.355+4G>C
XM_011544639.3:c.355+4G>C XP_011542941.1:n.355+4G>C
XM_024447265.1:c.145+4G>C XP_024303033.1:n.145+4G>C
XR_949470.3:n.656+4G>C
XR_949471.3:n.656+4G>C
XR_949472.3:n.656+4G>C
NM_000553.6:c.355+4G>C MANE Select NP_000544.2:n.355+4G>C
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