Canonical Allele Identifier: CA162737
Gene: WRN HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.31141448G>A
GRCh37 chr8:g.30998964G>A
Revel Score:
ENST00000298139 (MANE Select) 0.129
gnomAD v2:
8:30998964 G / A
gnomAD v3:
8:31141448 G / A
gnomAD v4:
chr8-31141448-G-A
Joint Max Group AF 0.00047199 (NFE)
Genomes Max Group AF 0.00029247 (NFE)
Exomes Max Group AF 0.00047658 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31141448G>A , CM000670.2:g.31141448G>A GRCh38
NC_000008.10:g.30998964G>A , CM000670.1:g.30998964G>A GRCh37
NC_000008.9:g.31118506G>A NCBI36
NG_008870.1:g.113187G>A , LRG_524:g.113187G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.2986G>A MANE Select ENSP00000298139.5:p.Asp996Asn
ENST00000650667.1:c.*2600G>A ENSP00000498593.1:n.*2600G>A
ENST00000298139.5:c.2986G>A ENSP00000298139.5:p.Asp996Asn
ENST00000521620.5:n.1619G>A
NM_000553.4:c.2986G>A , LRG_524t1:c.2986G>A NP_000544.2:p.Asp996Asn
XM_011544639.1:c.2905G>A XP_011542941.1:p.Asp969Asn
XM_011544640.1:c.1387G>A XP_011542942.1:p.Asp463Asn
XR_949470.1:n.3259G>A
XR_949471.1:n.3259G>A
XR_949472.1:n.3259G>A
NM_000553.5:c.2986G>A NP_000544.2:p.Asp996Asn
XM_011544639.3:c.2905G>A XP_011542941.1:p.Asp969Asn
XM_024447265.1:c.2776G>A XP_024303033.1:p.Asp926Asn
XR_949470.3:n.3287G>A
XR_949471.3:n.3287G>A
XR_949472.3:n.3287G>A
NM_000553.6:c.2986G>A MANE Select NP_000544.2:p.Asp996Asn
Search 100 bp 5'
Search 100 bp 3'