Canonical Allele Identifier: CA356174376

Gene: WFS1

Linked Data

• gnomAD v4: 4-6300958-T-G
• MyVariant Identifiers: chr4:g.6302685T>G (hg19) ; chr4:g.6300958T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300958T>G , CM000666.2:g.6300958T>G	GRCh38
NC_000004.11:g.6302685T>G , CM000666.1:g.6302685T>G	GRCh37
NC_000004.10:g.6353586T>G	NCBI36
NG_011700.1:g.36109T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1199T>G	ENSP00000507852.1:p.Leu400Arg
ENST00000683395.1:c.1140T>G
ENST00000684087.1:c.1163T>G	ENSP00000506978.1:p.Leu388Arg
ENST00000506362.2:c.914T>G	ENSP00000424103.2:p.Leu305Arg
ENST00000673642.1:c.822T>G	ENSP00000501242.1:p.Pro274=
ENST00000673991.1:c.1199T>G	ENSP00000501033.1:p.Leu400Arg
ENST00000226760.5:c.1163T>G MANE Select	ENSP00000226760.1:p.Leu388Arg
ENST00000503569.5:c.1163T>G	ENSP00000423337.1:p.Leu388Arg
ENST00000507765.1:n.1348T>G
NM_001145853.1:c.1163T>G	NP_001139325.1:p.Leu388Arg
NM_006005.3:c.1163T>G MANE Select	NP_005996.2:p.Leu388Arg
XM_017008586.1:c.1172T>G	XP_016864075.1:p.Leu391Arg