Canonical Allele Identifier: CA174844886

Gene: WRN

Linked Data

• ClinVar Variation Id: 2886988
• ClinVar RCV Id: RCV003615147
• dbSNP Id: rs201870156
• gnomAD v2: 8-30924709-A-C
• gnomAD v3: 8-31067193-A-C
• gnomAD v4: 8-31067193-A-C
• MyVariant Identifiers: chr8:g.30924709A>C (hg19) ; chr8:g.31067193A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31067193A>C , CM000670.2:g.31067193A>C	GRCh38
NC_000008.10:g.30924709A>C , CM000670.1:g.30924709A>C	GRCh37
NC_000008.9:g.31044251A>C	NCBI36
NG_008870.1:g.38932A>C , LRG_524:g.38932A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.654+11A>C MANE Select	ENSP00000298139.5:n.654+11A>C
ENST00000650667.1:c.*268+11A>C	ENSP00000498593.1:n.*268+11A>C
ENST00000298139.5:c.654+11A>C	ENSP00000298139.5:n.654+11A>C
NM_000553.4:c.654+11A>C , LRG_524t1:c.654+11A>C	NP_000544.2:n.654+11A>C
XM_011544639.1:c.654+11A>C	XP_011542941.1:n.654+11A>C
XR_949470.1:n.927+11A>C
XR_949471.1:n.927+11A>C
XR_949472.1:n.927+11A>C
NM_000553.5:c.654+11A>C	NP_000544.2:n.654+11A>C
XM_011544639.3:c.654+11A>C	XP_011542941.1:n.654+11A>C
XM_024447265.1:c.444+11A>C	XP_024303033.1:n.444+11A>C
XR_949470.3:n.955+11A>C
XR_949471.3:n.955+11A>C
XR_949472.3:n.955+11A>C
NM_000553.6:c.654+11A>C MANE Select	NP_000544.2:n.654+11A>C