Canonical Allele Identifier: CA356177661

Gene: WFS1

Linked Data

• ClinVar Variation Id: 1716850
• ClinVar RCV Id: RCV002296073
• MyVariant Identifiers: chr4:g.6303600T>C (hg19) ; chr4:g.6301873T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301873T>C , CM000666.2:g.6301873T>C	GRCh38
NC_000004.11:g.6303600T>C , CM000666.1:g.6303600T>C	GRCh37
NC_000004.10:g.6354501T>C	NCBI36
NG_011700.1:g.37024T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2114T>C	ENSP00000507852.1:p.Leu705Pro
ENST00000683395.1:c.2055T>C
ENST00000684087.1:c.2078T>C	ENSP00000506978.1:p.Leu693Pro
ENST00000506362.2:c.1829T>C	ENSP00000424103.2:p.Leu610Pro
ENST00000673642.1:c.1737T>C	ENSP00000501242.1:n.1737T>C
ENST00000673991.1:c.2114T>C	ENSP00000501033.1:p.Leu705Pro
ENST00000226760.5:c.2078T>C MANE Select	ENSP00000226760.1:p.Leu693Pro
ENST00000503569.5:c.2078T>C	ENSP00000423337.1:p.Leu693Pro
ENST00000507765.1:n.2263T>C
NM_001145853.1:c.2078T>C	NP_001139325.1:p.Leu693Pro
NM_006005.3:c.2078T>C MANE Select	NP_005996.2:p.Leu693Pro
XM_017008586.1:c.2087T>C	XP_016864075.1:p.Leu696Pro