Canonical Allele Identifier: CA4705145
Gene: WRN HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.31150454A>C
GRCh37 chr8:g.31007970A>C
Revel Score:
ENST00000298139 (MANE Select) 0.185
gnomAD v2:
8:31007970 A / C
gnomAD v3:
8:31150454 A / C
gnomAD v4:
chr8-31150454-A-C
Joint Max Group AF 0.00001063 (AFR)
Genomes Max Group AF 0.00001918 (AFR)
ClinVar RCV:
RCV001049557
ClinVar Variation:
846289
dbSNP:
369158322
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31150454A>C , CM000670.2:g.31150454A>C GRCh38
NC_000008.10:g.31007970A>C , CM000670.1:g.31007970A>C GRCh37
NC_000008.9:g.31127512A>C NCBI36
NG_008870.1:g.122193A>C , LRG_524:g.122193A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.3686A>C MANE Select ENSP00000298139.5:p.Gln1229Pro
ENST00000650667.1:c.*3300A>C ENSP00000498593.1:n.*3300A>C
ENST00000298139.5:c.3686A>C ENSP00000298139.5:p.Gln1229Pro
ENST00000521620.5:n.2319A>C
NM_000553.4:c.3686A>C , LRG_524t1:c.3686A>C NP_000544.2:p.Gln1229Pro
XM_011544639.1:c.3605A>C XP_011542941.1:p.Gln1202Pro
XM_011544640.1:c.2087A>C XP_011542942.1:p.Gln696Pro
XR_949470.1:n.3959A>C
XR_949471.1:n.3959A>C
XR_949472.1:n.3959A>C
XR_949643.1:n.457-1789T>G
XR_949644.1:n.381-1789T>G
XR_949647.1:n.1070-1789T>G
XR_949648.1:n.972-1789T>G
NM_000553.5:c.3686A>C NP_000544.2:p.Gln1229Pro
XM_011544639.3:c.3605A>C XP_011542941.1:p.Gln1202Pro
XM_024447265.1:c.3476A>C XP_024303033.1:p.Gln1159Pro
XR_949470.3:n.3987A>C
XR_949471.3:n.3987A>C
XR_949472.3:n.3987A>C
NM_000553.6:c.3686A>C MANE Select NP_000544.2:p.Gln1229Pro
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