Canonical Allele Identifier: CA156026

Gene: WRN

Linked Data

• ClinVar Variation Id: 130761
• ClinVar RCV Id: RCV000118879 ; RCV000368541 ; RCV000836844 ; RCV003315694
• dbSNP Id: rs1801196
• ExAC: 8:31024638 C / T
• gnomAD v2: 8-31024638-C-T
• gnomAD v3: 8-31167122-C-T
• gnomAD v4: 8-31167122-C-T
• MyVariant Identifiers: chr8:g.31024638C>T (hg19) ; chr8:g.31167122C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31167122C>T , CM000670.2:g.31167122C>T	GRCh38
NC_000008.10:g.31024638C>T , CM000670.1:g.31024638C>T	GRCh37
NC_000008.9:g.31144180C>T	NCBI36
NG_008870.1:g.138861C>T , LRG_524:g.138861C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.4083C>T MANE Select	ENSP00000298139.5:p.Ser1361=
ENST00000650667.1:c.*3697C>T	ENSP00000498593.1:n.*3697C>T
ENST00000651946.1:n.307C>T
ENST00000298139.5:c.4083C>T	ENSP00000298139.5:p.Ser1361=
ENST00000521620.5:n.2716C>T
NM_000553.4:c.4083C>T , LRG_524t1:c.4083C>T	NP_000544.2:p.Ser1361=
XM_011544639.1:c.4002C>T	XP_011542941.1:p.Ser1334=
XM_011544640.1:c.2484C>T	XP_011542942.1:p.Ser828=
XR_949643.1:n.336G>A
XR_949644.1:n.336G>A
XR_949645.1:n.336G>A
XR_949646.1:n.336G>A
XR_949647.1:n.949G>A
XR_949648.1:n.851G>A
NM_000553.5:c.4083C>T	NP_000544.2:p.Ser1361=
XM_011544639.3:c.4002C>T	XP_011542941.1:p.Ser1334=
XM_024447265.1:c.3873C>T	XP_024303033.1:p.Ser1291=
NM_000553.6:c.4083C>T MANE Select	NP_000544.2:p.Ser1361=