Canonical Allele Identifier: CA370922578

Gene: WRN

Linked Data

• gnomAD v4: 8-31141585-C-G
• MyVariant Identifiers: chr8:g.30999101C>G (hg19) ; chr8:g.31141585C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31141585C>G , CM000670.2:g.31141585C>G	GRCh38
NC_000008.10:g.30999101C>G , CM000670.1:g.30999101C>G	GRCh37
NC_000008.9:g.31118643C>G	NCBI36
NG_008870.1:g.113324C>G , LRG_524:g.113324C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3123C>G MANE Select	ENSP00000298139.5:p.Cys1041Trp
ENST00000650667.1:c.*2737C>G	ENSP00000498593.1:n.*2737C>G
ENST00000298139.5:c.3123C>G	ENSP00000298139.5:p.Cys1041Trp
ENST00000521620.5:n.1756C>G
NM_000553.4:c.3123C>G , LRG_524t1:c.3123C>G	NP_000544.2:p.Cys1041Trp
XM_011544639.1:c.3042C>G	XP_011542941.1:p.Cys1014Trp
XM_011544640.1:c.1524C>G	XP_011542942.1:p.Cys508Trp
XR_949470.1:n.3396C>G
XR_949471.1:n.3396C>G
XR_949472.1:n.3396C>G
NM_000553.5:c.3123C>G	NP_000544.2:p.Cys1041Trp
XM_011544639.3:c.3042C>G	XP_011542941.1:p.Cys1014Trp
XM_024447265.1:c.2913C>G	XP_024303033.1:p.Cys971Trp
XR_949470.3:n.3424C>G
XR_949471.3:n.3424C>G
XR_949472.3:n.3424C>G
NM_000553.6:c.3123C>G MANE Select	NP_000544.2:p.Cys1041Trp