Canonical Allele Identifier: CA1435773046

Gene: WFS1

Linked Data

• dbSNP Id: rs1730998501
• gnomAD v4: 4-6302634-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302634G>C , CM000666.2:g.6302634G>C	GRCh38
NC_000004.11:g.6304361G>C , CM000666.1:g.6304361G>C	GRCh37
NC_000004.10:g.6355262G>C	NCBI36
NG_011700.1:g.37785G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.*166G>C	ENSP00000507852.1:n.*166G>C
ENST00000683395.1:c.2816G>C
ENST00000684087.1:c.*166G>C	ENSP00000506978.1:n.*166G>C
ENST00000506362.2:c.*166G>C	ENSP00000424103.2:n.*166G>C
ENST00000673991.1:c.*166G>C	ENSP00000501033.1:n.*166G>C
ENST00000226760.5:c.*166G>C MANE Select	ENSP00000226760.1:n.*166G>C
ENST00000503569.5:c.*166G>C	ENSP00000423337.1:n.*166G>C
ENST00000507765.1:n.3024G>C
NM_001145853.1:c.*166G>C	NP_001139325.1:n.*166G>C
NM_006005.3:c.*166G>C MANE Select	NP_005996.2:n.*166G>C
XM_017008586.1:c.*166G>C	XP_016864075.1:n.*166G>C