Canonical Allele Identifier: CA356178613

Gene: WFS1

Linked Data

• dbSNP Id: rs1321291819
• gnomAD v2: 4-6303978-A-T
• gnomAD v3: 4-6302251-A-T
• gnomAD v4: 4-6302251-A-T
• MyVariant Identifiers: chr4:g.6303978A>T (hg19) ; chr4:g.6302251A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302251A>T , CM000666.2:g.6302251A>T	GRCh38
NC_000004.11:g.6303978A>T , CM000666.1:g.6303978A>T	GRCh37
NC_000004.10:g.6354879A>T	NCBI36
NG_011700.1:g.37402A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2492A>T	ENSP00000507852.1:p.Gln831Leu
ENST00000683395.1:c.2433A>T
ENST00000684087.1:c.2456A>T	ENSP00000506978.1:p.Gln819Leu
ENST00000506362.2:c.2207A>T	ENSP00000424103.2:p.Gln736Leu
ENST00000673991.1:c.2492A>T	ENSP00000501033.1:p.Gln831Leu
ENST00000226760.5:c.2456A>T MANE Select	ENSP00000226760.1:p.Gln819Leu
ENST00000503569.5:c.2456A>T	ENSP00000423337.1:p.Gln819Leu
ENST00000507765.1:n.2641A>T
NM_001145853.1:c.2456A>T	NP_001139325.1:p.Gln819Leu
NM_006005.3:c.2456A>T MANE Select	NP_005996.2:p.Gln819Leu
XM_017008586.1:c.2465A>T	XP_016864075.1:p.Gln822Leu