Canonical Allele Identifier: CA4705201
Gene: WRN HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.31157441G>T
GRCh37 chr8:g.31014957G>T
Revel Score:
ENST00000298139 (MANE Select) 0.542
gnomAD v2:
8:31014957 G / T
gnomAD v3:
8:31157441 G / T
gnomAD v4:
chr8-31157441-G-T
Joint Max Group AF 0.0018955 (EAS)
Genomes Max Group AF 0.0002633 (EAS)
Exomes Max Group AF 0.00205009 (EAS)
ClinVar RCV:
RCV000462991
RCV003153572
ClinVar Variation:
404001
dbSNP:
202129203
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31157441G>T , CM000670.2:g.31157441G>T GRCh38
NC_000008.10:g.31014957G>T , CM000670.1:g.31014957G>T GRCh37
NC_000008.9:g.31134499G>T NCBI36
NG_008870.1:g.129180G>T , LRG_524:g.129180G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.3893G>T MANE Select ENSP00000298139.5:p.Gly1298Val
ENST00000650667.1:c.*3507G>T ENSP00000498593.1:n.*3507G>T
ENST00000298139.5:c.3893G>T ENSP00000298139.5:p.Gly1298Val
ENST00000521620.5:n.2526G>T
NM_000553.4:c.3893G>T , LRG_524t1:c.3893G>T NP_000544.2:p.Gly1298Val
XM_011544639.1:c.3812G>T XP_011542941.1:p.Gly1271Val
XM_011544640.1:c.2294G>T XP_011542942.1:p.Gly765Val
XR_949470.1:n.4166G>T
XR_949471.1:n.4166G>T
XR_949472.1:n.4166G>T
XR_949643.1:n.457-8776C>A
XR_949644.1:n.381-8776C>A
XR_949647.1:n.1070-8776C>A
XR_949648.1:n.972-8776C>A
NM_000553.5:c.3893G>T NP_000544.2:p.Gly1298Val
XM_011544639.3:c.3812G>T XP_011542941.1:p.Gly1271Val
XM_024447265.1:c.3683G>T XP_024303033.1:p.Gly1228Val
XR_949470.3:n.4194G>T
XR_949471.3:n.4194G>T
XR_949472.3:n.4194G>T
NM_000553.6:c.3893G>T MANE Select NP_000544.2:p.Gly1298Val
Search 100 bp 5'
Search 100 bp 3'