Canonical Allele Identifier: CA207721

Gene: WFS1

Linked Data

• ClinVar Variation Id: 212610
• ClinVar RCV Id: RCV000193916 ; RCV002509045
• dbSNP Id: rs797046111
• MyVariant Identifiers: chr4:g.6302664T>C (hg19) ; chr4:g.6300937T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300937T>C , CM000666.2:g.6300937T>C	GRCh38
NC_000004.11:g.6302664T>C , CM000666.1:g.6302664T>C	GRCh37
NC_000004.10:g.6353565T>C	NCBI36
NG_011700.1:g.36088T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.1178T>C	ENSP00000507852.1:p.Leu393Pro
ENST00000683395.1:c.1119T>C
ENST00000684087.1:c.1142T>C	ENSP00000506978.1:p.Leu381Pro
ENST00000506362.2:c.893T>C	ENSP00000424103.2:p.Leu298Pro
ENST00000673642.1:c.801T>C	ENSP00000501242.1:p.Ala267=
ENST00000673991.1:c.1178T>C	ENSP00000501033.1:p.Leu393Pro
ENST00000226760.5:c.1142T>C MANE Select	ENSP00000226760.1:p.Leu381Pro
ENST00000503569.5:c.1142T>C	ENSP00000423337.1:p.Leu381Pro
ENST00000507765.1:n.1327T>C
NM_001145853.1:c.1142T>C	NP_001139325.1:p.Leu381Pro
NM_006005.3:c.1142T>C MANE Select	NP_005996.2:p.Leu381Pro
XM_017008586.1:c.1151T>C	XP_016864075.1:p.Leu384Pro