Canonical Allele Identifier: CA4704953

Gene: WRN

Linked Data

• ClinVar Variation Id: 412700
• ClinVar RCV Id: RCV000469169
• dbSNP Id: rs111426441
• ExAC: 8:30999220 T / C
• gnomAD v2: 8-30999220-T-C
• gnomAD v3: 8-31141704-T-C
• gnomAD v4: 8-31141704-T-C
• MyVariant Identifiers: chr8:g.30999220T>C (hg19) ; chr8:g.31141704T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141704T>C , CM000670.2:g.31141704T>C	GRCh38
NC_000008.10:g.30999220T>C , CM000670.1:g.30999220T>C	GRCh37
NC_000008.9:g.31118762T>C	NCBI36
NG_008870.1:g.113443T>C , LRG_524:g.113443T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3162T>C MANE Select	ENSP00000298139.5:p.Ala1054=
ENST00000650667.1:c.*2776T>C	ENSP00000498593.1:n.*2776T>C
ENST00000298139.5:c.3162T>C	ENSP00000298139.5:p.Ala1054=
ENST00000521620.5:n.1795T>C
NM_000553.4:c.3162T>C , LRG_524t1:c.3162T>C	NP_000544.2:p.Ala1054=
XM_011544639.1:c.3081T>C	XP_011542941.1:p.Ala1027=
XM_011544640.1:c.1563T>C	XP_011542942.1:p.Ala521=
XR_949470.1:n.3435T>C
XR_949471.1:n.3435T>C
XR_949472.1:n.3435T>C
NM_000553.5:c.3162T>C	NP_000544.2:p.Ala1054=
XM_011544639.3:c.3081T>C	XP_011542941.1:p.Ala1027=
XM_024447265.1:c.2952T>C	XP_024303033.1:p.Ala984=
XR_949470.3:n.3463T>C
XR_949471.3:n.3463T>C
XR_949472.3:n.3463T>C
NM_000553.6:c.3162T>C MANE Select	NP_000544.2:p.Ala1054=