Canonical Allele Identifier: CA162731
Gene: WRN HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.31141440G>A
GRCh37 chr8:g.30998956G>A
Revel Score:
ENST00000298139 (MANE Select) 0.401
gnomAD v2:
8:30998956 G / A
gnomAD v3:
8:31141440 G / A
gnomAD v4:
chr8-31141440-G-A
Joint Max Group AF 0.00005798 (MID)
Genomes Max Group AF 0.00001922 (AFR)
Exomes Max Group AF 0.00006092 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31141440G>A , CM000670.2:g.31141440G>A GRCh38
NC_000008.10:g.30998956G>A , CM000670.1:g.30998956G>A GRCh37
NC_000008.9:g.31118498G>A NCBI36
NG_008870.1:g.113179G>A , LRG_524:g.113179G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.2978G>A MANE Select ENSP00000298139.5:p.Arg993His
ENST00000650667.1:c.*2592G>A ENSP00000498593.1:n.*2592G>A
ENST00000298139.5:c.2978G>A ENSP00000298139.5:p.Arg993His
ENST00000521620.5:n.1611G>A
NM_000553.4:c.2978G>A , LRG_524t1:c.2978G>A NP_000544.2:p.Arg993His
XM_011544639.1:c.2897G>A XP_011542941.1:p.Arg966His
XM_011544640.1:c.1379G>A XP_011542942.1:p.Arg460His
XR_949470.1:n.3251G>A
XR_949471.1:n.3251G>A
XR_949472.1:n.3251G>A
NM_000553.5:c.2978G>A NP_000544.2:p.Arg993His
XM_011544639.3:c.2897G>A XP_011542941.1:p.Arg966His
XM_024447265.1:c.2768G>A XP_024303033.1:p.Arg923His
XR_949470.3:n.3279G>A
XR_949471.3:n.3279G>A
XR_949472.3:n.3279G>A
NM_000553.6:c.2978G>A MANE Select NP_000544.2:p.Arg993His
Search 100 bp 5'
Search 100 bp 3'