Canonical Allele Identifier: CA370925742

Gene: WRN

Linked Data

• dbSNP Id: rs121908447
• MyVariant Identifiers: chr8:g.31004913C>A (hg19) ; chr8:g.31147397C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147397C>A , CM000670.2:g.31147397C>A	GRCh38
NC_000008.10:g.31004913C>A , CM000670.1:g.31004913C>A	GRCh37
NC_000008.9:g.31124455C>A	NCBI36
NG_008870.1:g.119136C>A , LRG_524:g.119136C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000298139.7:c.3493C>A MANE Select	ENSP00000298139.5:p.Gln1165Lys
ENST00000650667.1:c.*3107C>A	ENSP00000498593.1:n.*3107C>A
ENST00000298139.5:c.3493C>A	ENSP00000298139.5:p.Gln1165Lys
ENST00000521620.5:n.2126C>A
NM_000553.4:c.3493C>A , LRG_524t1:c.3493C>A	NP_000544.2:p.Gln1165Lys
XM_011544639.1:c.3412C>A	XP_011542941.1:p.Gln1138Lys
XM_011544640.1:c.1894C>A	XP_011542942.1:p.Gln632Lys
XR_949470.1:n.3766C>A
XR_949471.1:n.3766C>A
XR_949472.1:n.3766C>A
XR_949643.1:n.614+1111G>T
NM_000553.5:c.3493C>A	NP_000544.2:p.Gln1165Lys
XM_011544639.3:c.3412C>A	XP_011542941.1:p.Gln1138Lys
XM_024447265.1:c.3283C>A	XP_024303033.1:p.Gln1095Lys
XR_949470.3:n.3794C>A
XR_949471.3:n.3794C>A
XR_949472.3:n.3794C>A
NM_000553.6:c.3493C>A MANE Select	NP_000544.2:p.Gln1165Lys