Canonical Allele Identifier: CA370925754

Gene: WRN

Linked Data

• MyVariant Identifiers: chr8:g.31004915G>C (hg19) ; chr8:g.31147399G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.31147399G>C , CM000670.2:g.31147399G>C	GRCh38
NC_000008.10:g.31004915G>C , CM000670.1:g.31004915G>C	GRCh37
NC_000008.9:g.31124457G>C	NCBI36
NG_008870.1:g.119138G>C , LRG_524:g.119138G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298139.7:c.3495G>C MANE Select	ENSP00000298139.5:p.Gln1165His
ENST00000650667.1:c.*3109G>C	ENSP00000498593.1:n.*3109G>C
ENST00000298139.5:c.3495G>C	ENSP00000298139.5:p.Gln1165His
ENST00000521620.5:n.2128G>C
NM_000553.4:c.3495G>C , LRG_524t1:c.3495G>C	NP_000544.2:p.Gln1165His
XM_011544639.1:c.3414G>C	XP_011542941.1:p.Gln1138His
XM_011544640.1:c.1896G>C	XP_011542942.1:p.Gln632His
XR_949470.1:n.3768G>C
XR_949471.1:n.3768G>C
XR_949472.1:n.3768G>C
XR_949643.1:n.614+1109C>G
NM_000553.5:c.3495G>C	NP_000544.2:p.Gln1165His
XM_011544639.3:c.3414G>C	XP_011542941.1:p.Gln1138His
XM_024447265.1:c.3285G>C	XP_024303033.1:p.Gln1095His
XR_949470.3:n.3796G>C
XR_949471.3:n.3796G>C
XR_949472.3:n.3796G>C
NM_000553.6:c.3495G>C MANE Select	NP_000544.2:p.Gln1165His