Canonical Allele Identifier: CA438368096

Gene: WFS1

Linked Data

• MyVariant Identifiers: chr4:g.6302662G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300935G>C , CM000666.2:g.6300935G>C	GRCh38
NC_000004.11:g.6302662G>C , CM000666.1:g.6302662G>C	GRCh37
NC_000004.10:g.6353563G>C	NCBI36
NG_011700.1:g.36086G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.1176G>C	ENSP00000507852.1:p.Leu392=
ENST00000683395.1:c.1117G>C
ENST00000684087.1:c.1140G>C	ENSP00000506978.1:p.Leu380=
ENST00000506362.2:c.891G>C	ENSP00000424103.2:p.Leu297=
ENST00000673642.1:c.799G>C	ENSP00000501242.1:p.Ala267Pro
ENST00000673991.1:c.1176G>C	ENSP00000501033.1:p.Leu392=
ENST00000226760.5:c.1140G>C MANE Select	ENSP00000226760.1:p.Leu380=
ENST00000503569.5:c.1140G>C	ENSP00000423337.1:p.Leu380=
ENST00000507765.1:n.1325G>C
NM_001145853.1:c.1140G>C	NP_001139325.1:p.Leu380=
NM_006005.3:c.1140G>C MANE Select	NP_005996.2:p.Leu380=
XM_017008586.1:c.1149G>C	XP_016864075.1:p.Leu383=