Canonical Allele Identifier: CA370925748

Gene: WRN

Linked Data

• ClinVar Variation Id: 2882907
• ClinVar RCV Id: RCV003615107
• dbSNP Id: rs1308927977
• gnomAD v3: 8-31147398-A-C
• gnomAD v4: 8-31147398-A-C
• MyVariant Identifiers: chr8:g.31004914A>C (hg19) ; chr8:g.31147398A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147398A>C , CM000670.2:g.31147398A>C	GRCh38
NC_000008.10:g.31004914A>C , CM000670.1:g.31004914A>C	GRCh37
NC_000008.9:g.31124456A>C	NCBI36
NG_008870.1:g.119137A>C , LRG_524:g.119137A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3494A>C MANE Select	ENSP00000298139.5:p.Gln1165Pro
ENST00000650667.1:c.*3108A>C	ENSP00000498593.1:n.*3108A>C
ENST00000298139.5:c.3494A>C	ENSP00000298139.5:p.Gln1165Pro
ENST00000521620.5:n.2127A>C
NM_000553.4:c.3494A>C , LRG_524t1:c.3494A>C	NP_000544.2:p.Gln1165Pro
XM_011544639.1:c.3413A>C	XP_011542941.1:p.Gln1138Pro
XM_011544640.1:c.1895A>C	XP_011542942.1:p.Gln632Pro
XR_949470.1:n.3767A>C
XR_949471.1:n.3767A>C
XR_949472.1:n.3767A>C
XR_949643.1:n.614+1110T>G
NM_000553.5:c.3494A>C	NP_000544.2:p.Gln1165Pro
XM_011544639.3:c.3413A>C	XP_011542941.1:p.Gln1138Pro
XM_024447265.1:c.3284A>C	XP_024303033.1:p.Gln1095Pro
XR_949470.3:n.3795A>C
XR_949471.3:n.3795A>C
XR_949472.3:n.3795A>C
NM_000553.6:c.3494A>C MANE Select	NP_000544.2:p.Gln1165Pro