Canonical Allele Identifier: CA4705299

Gene: WRN

Linked Data

• ClinVar Variation Id: 2196324
• ClinVar RCV Id: RCV002633582
• dbSNP Id: rs779894987
• ExAC: 8:31030537 A / G
• gnomAD v2: 8-31030537-A-G
• gnomAD v4: 8-31173021-A-G
• MyVariant Identifiers: chr8:g.31030537A>G (hg19) ; chr8:g.31173021A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173021A>G , CM000670.2:g.31173021A>G	GRCh38
NC_000008.10:g.31030537A>G , CM000670.1:g.31030537A>G	GRCh37
NC_000008.9:g.31150079A>G	NCBI36
NG_008870.1:g.144760A>G , LRG_524:g.144760A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.4218A>G MANE Select	ENSP00000298139.5:p.Arg1406=
ENST00000650667.1:c.*3832A>G	ENSP00000498593.1:n.*3832A>G
ENST00000651946.1:n.442A>G
ENST00000298139.5:c.4218A>G	ENSP00000298139.5:p.Arg1406=
ENST00000521620.5:n.2851A>G
NM_000553.4:c.4218A>G , LRG_524t1:c.4218A>G	NP_000544.2:p.Arg1406=
XM_011544639.1:c.4137A>G	XP_011542941.1:p.Arg1379=
XM_011544640.1:c.2619A>G	XP_011542942.1:p.Arg873=
XR_949643.1:n.88-1703T>C
XR_949644.1:n.88-1703T>C
XR_949645.1:n.88-1703T>C
XR_949646.1:n.88-1703T>C
XR_949647.1:n.701-1703T>C
XR_949648.1:n.603-1703T>C
NM_000553.5:c.4218A>G	NP_000544.2:p.Arg1406=
XM_011544639.3:c.4137A>G	XP_011542941.1:p.Arg1379=
XM_024447265.1:c.4008A>G	XP_024303033.1:p.Arg1336=
NM_000553.6:c.4218A>G MANE Select	NP_000544.2:p.Arg1406=