Canonical Allele Identifier: CA4704095
Gene: WRN HGNC NCBI

Linked Data

ClinVar Variation Id: 1129454
ClinVar RCV Id: RCV001462592
dbSNP Id: rs780927874
ExAC: 8:30924541 A / G
gnomAD v2: 8-30924541-A-G
gnomAD v4: 8-31067025-A-G
MyVariant Identifiers: chr8:g.30924541A>G (hg19) chr8:g.30924541_30924542delinsGT (hg19) chr8:g.31067025A>G (hg38) chr8:g.31067025_31067026delinsGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31067025A>G , CM000670.2:g.31067025A>G GRCh38
NC_000008.10:g.30924541A>G , CM000670.1:g.30924541A>G GRCh37
NC_000008.9:g.31044083A>G NCBI36
NG_008870.1:g.38764A>G , LRG_524:g.38764A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.505-8A>G MANE Select ENSP00000298139.5:n.505-8A>G
ENST00000650667.1:c.*119-8A>G ENSP00000498593.1:n.*119-8A>G
ENST00000298139.5:c.505-8A>G ENSP00000298139.5:n.505-8A>G
NM_000553.4:c.505-8A>G , LRG_524t1:c.505-8A>G NP_000544.2:n.505-8A>G
XM_011544639.1:c.505-8A>G XP_011542941.1:n.505-8A>G
XR_949470.1:n.778-8A>G
XR_949471.1:n.778-8A>G
XR_949472.1:n.778-8A>G
NM_000553.5:c.505-8A>G NP_000544.2:n.505-8A>G
XM_011544639.3:c.505-8A>G XP_011542941.1:n.505-8A>G
XM_024447265.1:c.295-8A>G XP_024303033.1:n.295-8A>G
XR_949470.3:n.806-8A>G
XR_949471.3:n.806-8A>G
XR_949472.3:n.806-8A>G
NM_000553.6:c.505-8A>G MANE Select NP_000544.2:n.505-8A>G
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