Canonical Allele Identifier: CA4704963

Gene: WRN

Linked Data

• ClinVar Variation Id: 528148
• ClinVar RCV Id: RCV000633231
• dbSNP Id: rs61761623
• ExAC: 8:30999269 C / T
• gnomAD v2: 8-30999269-C-T
• gnomAD v3: 8-31141753-C-T
• gnomAD v4: 8-31141753-C-T
• MyVariant Identifiers: chr8:g.30999269C>T (hg19) ; chr8:g.31141753C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141753C>T , CM000670.2:g.31141753C>T	GRCh38
NC_000008.10:g.30999269C>T , CM000670.1:g.30999269C>T	GRCh37
NC_000008.9:g.31118811C>T	NCBI36
NG_008870.1:g.113492C>T , LRG_524:g.113492C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3211C>T MANE Select	ENSP00000298139.5:p.Pro1071Ser
ENST00000650667.1:c.*2825C>T	ENSP00000498593.1:n.*2825C>T
ENST00000298139.5:c.3211C>T	ENSP00000298139.5:p.Pro1071Ser
ENST00000521620.5:n.1844C>T
NM_000553.4:c.3211C>T , LRG_524t1:c.3211C>T	NP_000544.2:p.Pro1071Ser
XM_011544639.1:c.3130C>T	XP_011542941.1:p.Pro1044Ser
XM_011544640.1:c.1612C>T	XP_011542942.1:p.Pro538Ser
XR_949470.1:n.3484C>T
XR_949471.1:n.3484C>T
XR_949472.1:n.3484C>T
NM_000553.5:c.3211C>T	NP_000544.2:p.Pro1071Ser
XM_011544639.3:c.3130C>T	XP_011542941.1:p.Pro1044Ser
XM_024447265.1:c.3001C>T	XP_024303033.1:p.Pro1001Ser
XR_949470.3:n.3512C>T
XR_949471.3:n.3512C>T
XR_949472.3:n.3512C>T
NM_000553.6:c.3211C>T MANE Select	NP_000544.2:p.Pro1071Ser