Canonical Allele Identifier: CA174888782

Gene: WRN

Linked Data

• dbSNP Id: rs188087758
• gnomAD v2: 8-30891482-T-C
• gnomAD v3: 8-31033966-T-C
• gnomAD v4: 8-31033966-T-C
• MyVariant Identifiers: chr8:g.30891482T>C (hg19) ; chr8:g.31033966T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31033966T>C , CM000670.2:g.31033966T>C	GRCh38
NC_000008.10:g.30891482T>C , CM000670.1:g.30891482T>C	GRCh37
NC_000008.9:g.31011024T>C	NCBI36
NG_008870.1:g.5705T>C , LRG_524:g.5705T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.-84T>C MANE Select	ENSP00000298139.5:n.-84T>C
ENST00000650667.1:c.-84T>C	ENSP00000498593.1:n.-84T>C
ENST00000298139.5:c.-84T>C	ENSP00000298139.5:n.-84T>C
NM_000553.4:c.-84T>C , LRG_524t1:c.-84T>C	NP_000544.2:n.-84T>C
XM_011544639.1:c.-84T>C	XP_011542941.1:n.-84T>C
XR_949470.1:n.190T>C
XR_949471.1:n.190T>C
XR_949472.1:n.190T>C
NM_000553.5:c.-84T>C	NP_000544.2:n.-84T>C
XM_011544639.3:c.-84T>C	XP_011542941.1:n.-84T>C
XM_024447265.1:c.-418T>C	XP_024303033.1:n.-418T>C
XR_949470.3:n.218T>C
XR_949471.3:n.218T>C
XR_949472.3:n.218T>C
NM_000553.6:c.-84T>C MANE Select	NP_000544.2:n.-84T>C