Canonical Allele Identifier: CA295801

Gene: WFS1

Linked Data

• ClinVar Variation Id: 137913
• ClinVar RCV Id: RCV000155411 ; RCV000445544 ; RCV000351887 ; RCV000415767 ; RCV001157342 ; RCV000987408
• dbSNP Id: rs35031397
• ExAC: 4:6302816 C / G
• gnomAD v2: 4-6302816-C-G
• gnomAD v3: 4-6301089-C-G
• gnomAD v4: 4-6301089-C-G
• MyVariant Identifiers: chr4:g.6302816C>G (hg19) ; chr4:g.6301089C>G (hg38)
• PubMed: PMID:11244483

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301089C>G , CM000666.2:g.6301089C>G	GRCh38
NC_000004.11:g.6302816C>G , CM000666.1:g.6302816C>G	GRCh37
NC_000004.10:g.6353717C>G	NCBI36
NG_011700.1:g.36240C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1330C>G	ENSP00000507852.1:p.Leu444Val
ENST00000683395.1:c.1271C>G
ENST00000684087.1:c.1294C>G	ENSP00000506978.1:p.Leu432Val
ENST00000506362.2:c.1045C>G	ENSP00000424103.2:p.Leu349Val
ENST00000673642.1:c.953C>G	ENSP00000501242.1:p.Ala318Gly
ENST00000673991.1:c.1330C>G	ENSP00000501033.1:p.Leu444Val
ENST00000226760.5:c.1294C>G MANE Select	ENSP00000226760.1:p.Leu432Val
ENST00000503569.5:c.1294C>G	ENSP00000423337.1:p.Leu432Val
ENST00000507765.1:n.1479C>G
NM_001145853.1:c.1294C>G	NP_001139325.1:p.Leu432Val
NM_006005.3:c.1294C>G MANE Select	NP_005996.2:p.Leu432Val
XM_017008586.1:c.1303C>G	XP_016864075.1:p.Leu435Val