Canonical Allele Identifier: CA460228393

Gene: WRN

Linked Data

• ClinVar Variation Id: 1125675
• ClinVar RCV Id: RCV001457480
• dbSNP Id: rs1804161611
• gnomAD v4: 8-31173027-T-G
• MyVariant Identifiers: chr8:g.31030543T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31173027T>G , CM000670.2:g.31173027T>G	GRCh38
NC_000008.10:g.31030543T>G , CM000670.1:g.31030543T>G	GRCh37
NC_000008.9:g.31150085T>G	NCBI36
NG_008870.1:g.144766T>G , LRG_524:g.144766T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.4224T>G MANE Select	ENSP00000298139.5:p.Pro1408=
ENST00000650667.1:c.*3838T>G	ENSP00000498593.1:n.*3838T>G
ENST00000651946.1:n.448T>G
ENST00000298139.5:c.4224T>G	ENSP00000298139.5:p.Pro1408=
ENST00000521620.5:n.2857T>G
NM_000553.4:c.4224T>G , LRG_524t1:c.4224T>G	NP_000544.2:p.Pro1408=
XM_011544639.1:c.4143T>G	XP_011542941.1:p.Pro1381=
XM_011544640.1:c.2625T>G	XP_011542942.1:p.Pro875=
XR_949643.1:n.88-1709A>C
XR_949644.1:n.88-1709A>C
XR_949645.1:n.88-1709A>C
XR_949646.1:n.88-1709A>C
XR_949647.1:n.701-1709A>C
XR_949648.1:n.603-1709A>C
NM_000553.5:c.4224T>G	NP_000544.2:p.Pro1408=
XM_011544639.3:c.4143T>G	XP_011542941.1:p.Pro1381=
XM_024447265.1:c.4014T>G	XP_024303033.1:p.Pro1338=
NM_000553.6:c.4224T>G MANE Select	NP_000544.2:p.Pro1408=