Canonical Allele Identifier: CA370911616

Gene: WRN

Linked Data

• ClinVar Variation Id: 1059963
• ClinVar RCV Id: RCV001369331
• dbSNP Id: rs758132889
• gnomAD v3: 8-31173020-G-C
• gnomAD v4: 8-31173020-G-C
• MyVariant Identifiers: chr8:g.31030536G>C (hg19) ; chr8:g.31173020G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173020G>C , CM000670.2:g.31173020G>C	GRCh38
NC_000008.10:g.31030536G>C , CM000670.1:g.31030536G>C	GRCh37
NC_000008.9:g.31150078G>C	NCBI36
NG_008870.1:g.144759G>C , LRG_524:g.144759G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.4217G>C MANE Select	ENSP00000298139.5:p.Arg1406Pro
ENST00000650667.1:c.*3831G>C	ENSP00000498593.1:n.*3831G>C
ENST00000651946.1:n.441G>C
ENST00000298139.5:c.4217G>C	ENSP00000298139.5:p.Arg1406Pro
ENST00000521620.5:n.2850G>C
NM_000553.4:c.4217G>C , LRG_524t1:c.4217G>C	NP_000544.2:p.Arg1406Pro
XM_011544639.1:c.4136G>C	XP_011542941.1:p.Arg1379Pro
XM_011544640.1:c.2618G>C	XP_011542942.1:p.Arg873Pro
XR_949643.1:n.88-1702C>G
XR_949644.1:n.88-1702C>G
XR_949645.1:n.88-1702C>G
XR_949646.1:n.88-1702C>G
XR_949647.1:n.701-1702C>G
XR_949648.1:n.603-1702C>G
NM_000553.5:c.4217G>C	NP_000544.2:p.Arg1406Pro
XM_011544639.3:c.4136G>C	XP_011542941.1:p.Arg1379Pro
XM_024447265.1:c.4007G>C	XP_024303033.1:p.Arg1336Pro
NM_000553.6:c.4217G>C MANE Select	NP_000544.2:p.Arg1406Pro