Canonical Allele Identifier: CA356169690

Gene: WFS1

Linked Data

• dbSNP Id: rs750806151
• gnomAD v2: 4-6279307-G-C
• gnomAD v4: 4-6277580-G-C
• MyVariant Identifiers: chr4:g.6279307G>C (hg19) ; chr4:g.6277580G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6277580G>C , CM000666.2:g.6277580G>C	GRCh38
NC_000004.11:g.6279307G>C , CM000666.1:g.6279307G>C	GRCh37
NC_000004.10:g.6330208G>C	NCBI36
NG_011700.1:g.12731G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000506588.6:n.295G>C
ENST00000682059.1:c.125G>C	ENSP00000507988.1:p.Arg42Pro
ENST00000682275.1:c.125G>C	ENSP00000507852.1:p.Arg42Pro
ENST00000683395.1:c.115G>C
ENST00000684054.1:c.125G>C	ENSP00000507120.1:p.Arg42Pro
ENST00000684087.1:c.125G>C	ENSP00000506978.1:p.Arg42Pro
ENST00000684700.1:c.125G>C	ENSP00000507806.1:p.Arg42Pro
ENST00000506362.2:c.-18+7566G>C	ENSP00000424103.2:n.-18+7566G>C
ENST00000673991.1:c.125G>C	ENSP00000501033.1:p.Arg42Pro
ENST00000674051.1:c.66+59G>C	ENSP00000501083.1:n.66+59G>C
ENST00000226760.5:c.125G>C MANE Select	ENSP00000226760.1:p.Arg42Pro
ENST00000503569.5:c.125G>C	ENSP00000423337.1:p.Arg42Pro
ENST00000506588.5:n.295G>C
NM_001145853.1:c.125G>C	NP_001139325.1:p.Arg42Pro
NM_006005.3:c.125G>C MANE Select	NP_005996.2:p.Arg42Pro
XM_017008586.1:c.134G>C	XP_016864075.1:p.Arg45Pro