Canonical Allele Identifier: CA580995264

Gene: WRN

Linked Data

• dbSNP Id: rs1360944117
• gnomAD v2: 8-30924422-G-C
• gnomAD v3: 8-31066906-G-C
• gnomAD v4: 8-31066906-G-C
• MyVariant Identifiers: chr8:g.30924422G>C (hg19) ; chr8:g.31066906G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31066906G>C , CM000670.2:g.31066906G>C	GRCh38
NC_000008.10:g.30924422G>C , CM000670.1:g.30924422G>C	GRCh37
NC_000008.9:g.31043964G>C	NCBI36
NG_008870.1:g.38645G>C , LRG_524:g.38645G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.505-127G>C MANE Select	ENSP00000298139.5:n.505-127G>C
ENST00000650667.1:c.*119-127G>C	ENSP00000498593.1:n.*119-127G>C
ENST00000298139.5:c.505-127G>C	ENSP00000298139.5:n.505-127G>C
NM_000553.4:c.505-127G>C , LRG_524t1:c.505-127G>C	NP_000544.2:n.505-127G>C
XM_011544639.1:c.505-127G>C	XP_011542941.1:n.505-127G>C
XR_949470.1:n.778-127G>C
XR_949471.1:n.778-127G>C
XR_949472.1:n.778-127G>C
NM_000553.5:c.505-127G>C	NP_000544.2:n.505-127G>C
XM_011544639.3:c.505-127G>C	XP_011542941.1:n.505-127G>C
XM_024447265.1:c.295-127G>C	XP_024303033.1:n.295-127G>C
XR_949470.3:n.806-127G>C
XR_949471.3:n.806-127G>C
XR_949472.3:n.806-127G>C
NM_000553.6:c.505-127G>C MANE Select	NP_000544.2:n.505-127G>C