Canonical Allele Identifier: CA460221725
Gene: WRN HGNC NCBI

Linked Data

dbSNP Id: rs2130050376
MyVariant Identifiers: chr8:g.30924665G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.31067149G>A , CM000670.2:g.31067149G>A GRCh38
NC_000008.10:g.30924665G>A , CM000670.1:g.30924665G>A GRCh37
NC_000008.9:g.31044207G>A NCBI36
NG_008870.1:g.38888G>A , LRG_524:g.38888G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000298139.7:c.621G>A MANE Select ENSP00000298139.5:p.Glu207=
ENST00000650667.1:c.*235G>A ENSP00000498593.1:n.*235G>A
ENST00000298139.5:c.621G>A ENSP00000298139.5:p.Glu207=
NM_000553.4:c.621G>A , LRG_524t1:c.621G>A NP_000544.2:p.Glu207=
XM_011544639.1:c.621G>A XP_011542941.1:p.Glu207=
XR_949470.1:n.894G>A
XR_949471.1:n.894G>A
XR_949472.1:n.894G>A
NM_000553.5:c.621G>A NP_000544.2:p.Glu207=
XM_011544639.3:c.621G>A XP_011542941.1:p.Glu207=
XM_024447265.1:c.411G>A XP_024303033.1:p.Glu137=
XR_949470.3:n.922G>A
XR_949471.3:n.922G>A
XR_949472.3:n.922G>A
NM_000553.6:c.621G>A MANE Select NP_000544.2:p.Glu207=