Canonical Allele Identifier: CA4705305

Gene: WRN

Linked Data

• ClinVar Variation Id: 238166
• ClinVar RCV Id: RCV000225967 ; RCV003947753
• dbSNP Id: rs112024742
• ExAC: 8:31030567 T / C
• gnomAD v2: 8-31030567-T-C
• gnomAD v3: 8-31173051-T-C
• gnomAD v4: 8-31173051-T-C
• MyVariant Identifiers: chr8:g.31030567T>C (hg19) ; chr8:g.31173051T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173051T>C , CM000670.2:g.31173051T>C	GRCh38
NC_000008.10:g.31030567T>C , CM000670.1:g.31030567T>C	GRCh37
NC_000008.9:g.31150109T>C	NCBI36
NG_008870.1:g.144790T>C , LRG_524:g.144790T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.4248T>C MANE Select	ENSP00000298139.5:p.Asp1416=
ENST00000650667.1:c.*3862T>C	ENSP00000498593.1:n.*3862T>C
ENST00000651946.1:n.472T>C
ENST00000298139.5:c.4248T>C	ENSP00000298139.5:p.Asp1416=
ENST00000521620.5:n.2881T>C
NM_000553.4:c.4248T>C , LRG_524t1:c.4248T>C	NP_000544.2:p.Asp1416=
XM_011544639.1:c.4167T>C	XP_011542941.1:p.Asp1389=
XM_011544640.1:c.2649T>C	XP_011542942.1:p.Asp883=
XR_949643.1:n.88-1733A>G
XR_949644.1:n.88-1733A>G
XR_949645.1:n.88-1733A>G
XR_949646.1:n.88-1733A>G
XR_949647.1:n.701-1733A>G
XR_949648.1:n.603-1733A>G
NM_000553.5:c.4248T>C	NP_000544.2:p.Asp1416=
XM_011544639.3:c.4167T>C	XP_011542941.1:p.Asp1389=
XM_024447265.1:c.4038T>C	XP_024303033.1:p.Asp1346=
NM_000553.6:c.4248T>C MANE Select	NP_000544.2:p.Asp1416=