Canonical Allele Identifier: CA356177101

Gene: WFS1

Linked Data

• dbSNP Id: rs777622586
• gnomAD v4: 4-6301713-C-T
• MyVariant Identifiers: chr4:g.6303440C>T (hg19) ; chr4:g.6301713C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301713C>T , CM000666.2:g.6301713C>T	GRCh38
NC_000004.11:g.6303440C>T , CM000666.1:g.6303440C>T	GRCh37
NC_000004.10:g.6354341C>T	NCBI36
NG_011700.1:g.36864C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1954C>T	ENSP00000507852.1:p.Leu652Phe
ENST00000683395.1:c.1895C>T
ENST00000684087.1:c.1918C>T	ENSP00000506978.1:p.Leu640Phe
ENST00000506362.2:c.1669C>T	ENSP00000424103.2:p.Leu557Phe
ENST00000673642.1:c.1577C>T	ENSP00000501242.1:n.1577C>T
ENST00000673991.1:c.1954C>T	ENSP00000501033.1:p.Leu652Phe
ENST00000226760.5:c.1918C>T MANE Select	ENSP00000226760.1:p.Leu640Phe
ENST00000503569.5:c.1918C>T	ENSP00000423337.1:p.Leu640Phe
ENST00000507765.1:n.2103C>T
NM_001145853.1:c.1918C>T	NP_001139325.1:p.Leu640Phe
NM_006005.3:c.1918C>T MANE Select	NP_005996.2:p.Leu640Phe
XM_017008586.1:c.1927C>T	XP_016864075.1:p.Leu643Phe