Canonical Allele Identifier: CA460488488
Gene: WRN HGNC NCBI

Linked Data

dbSNP Id: rs1802644130
MyVariant Identifiers: chr8:g.30999229A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31141713A>G , CM000670.2:g.31141713A>G GRCh38
NC_000008.10:g.30999229A>G , CM000670.1:g.30999229A>G GRCh37
NC_000008.9:g.31118771A>G NCBI36
NG_008870.1:g.113452A>G , LRG_524:g.113452A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.3171A>G MANE Select ENSP00000298139.5:p.Glu1057=
ENST00000650667.1:c.*2785A>G ENSP00000498593.1:n.*2785A>G
ENST00000298139.5:c.3171A>G ENSP00000298139.5:p.Glu1057=
ENST00000521620.5:n.1804A>G
NM_000553.4:c.3171A>G , LRG_524t1:c.3171A>G NP_000544.2:p.Glu1057=
XM_011544639.1:c.3090A>G XP_011542941.1:p.Glu1030=
XM_011544640.1:c.1572A>G XP_011542942.1:p.Glu524=
XR_949470.1:n.3444A>G
XR_949471.1:n.3444A>G
XR_949472.1:n.3444A>G
NM_000553.5:c.3171A>G NP_000544.2:p.Glu1057=
XM_011544639.3:c.3090A>G XP_011542941.1:p.Glu1030=
XM_024447265.1:c.2961A>G XP_024303033.1:p.Glu987=
XR_949470.3:n.3472A>G
XR_949471.3:n.3472A>G
XR_949472.3:n.3472A>G
NM_000553.6:c.3171A>G MANE Select NP_000544.2:p.Glu1057=