Canonical Allele Identifier: CA4704117

Gene: WRN

Linked Data

• dbSNP Id: rs772273549
• ExAC: 8:30924690 G / C
• gnomAD v2: 8-30924690-G-C
• MyVariant Identifiers: chr8:g.30924690G>C (hg19) ; chr8:g.31067174G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067174G>C , CM000670.2:g.31067174G>C	GRCh38
NC_000008.10:g.30924690G>C , CM000670.1:g.30924690G>C	GRCh37
NC_000008.9:g.31044232G>C	NCBI36
NG_008870.1:g.38913G>C , LRG_524:g.38913G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.646G>C MANE Select	ENSP00000298139.5:p.Asp216His
ENST00000650667.1:c.*260G>C	ENSP00000498593.1:n.*260G>C
ENST00000298139.5:c.646G>C	ENSP00000298139.5:p.Asp216His
NM_000553.4:c.646G>C , LRG_524t1:c.646G>C	NP_000544.2:p.Asp216His
XM_011544639.1:c.646G>C	XP_011542941.1:p.Asp216His
XR_949470.1:n.919G>C
XR_949471.1:n.919G>C
XR_949472.1:n.919G>C
NM_000553.5:c.646G>C	NP_000544.2:p.Asp216His
XM_011544639.3:c.646G>C	XP_011542941.1:p.Asp216His
XM_024447265.1:c.436G>C	XP_024303033.1:p.Asp146His
XR_949470.3:n.947G>C
XR_949471.3:n.947G>C
XR_949472.3:n.947G>C
NM_000553.6:c.646G>C MANE Select	NP_000544.2:p.Asp216His