Canonical Allele Identifier: CA356173931

Gene: WFS1

Linked Data

• MyVariant Identifiers: chr4:g.6302463G>T (hg19) ; chr4:g.6300736G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300736G>T , CM000666.2:g.6300736G>T	GRCh38
NC_000004.11:g.6302463G>T , CM000666.1:g.6302463G>T	GRCh37
NC_000004.10:g.6353364G>T	NCBI36
NG_011700.1:g.35887G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.977G>T	ENSP00000507852.1:p.Trp326Leu
ENST00000683395.1:c.918G>T
ENST00000684087.1:c.941G>T	ENSP00000506978.1:p.Trp314Leu
ENST00000506362.2:c.692G>T	ENSP00000424103.2:p.Trp231Leu
ENST00000673642.1:c.661-61G>T	ENSP00000501242.1:n.661-61G>T
ENST00000673991.1:c.977G>T	ENSP00000501033.1:p.Trp326Leu
ENST00000226760.5:c.941G>T MANE Select	ENSP00000226760.1:p.Trp314Leu
ENST00000503569.5:c.941G>T	ENSP00000423337.1:p.Trp314Leu
ENST00000506362.1:c.574G>T
ENST00000507765.1:n.1126G>T
ENST00000513395.1:n.499G>T
NM_001145853.1:c.941G>T	NP_001139325.1:p.Trp314Leu
NM_006005.3:c.941G>T MANE Select	NP_005996.2:p.Trp314Leu
XM_017008586.1:c.950G>T	XP_016864075.1:p.Trp317Leu