Canonical Allele Identifier: CA356178441

Gene: WFS1

Linked Data

• dbSNP Id: rs1730960629
• gnomAD v4: 4-6302157-G-C
• MyVariant Identifiers: chr4:g.6303884G>C (hg19) ; chr4:g.6302157G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302157G>C , CM000666.2:g.6302157G>C	GRCh38
NC_000004.11:g.6303884G>C , CM000666.1:g.6303884G>C	GRCh37
NC_000004.10:g.6354785G>C	NCBI36
NG_011700.1:g.37308G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.2398G>C	ENSP00000507852.1:p.Asp800His
ENST00000683395.1:c.2339G>C
ENST00000684087.1:c.2362G>C	ENSP00000506978.1:p.Asp788His
ENST00000506362.2:c.2113G>C	ENSP00000424103.2:p.Asp705His
ENST00000673991.1:c.2398G>C	ENSP00000501033.1:p.Asp800His
ENST00000226760.5:c.2362G>C MANE Select	ENSP00000226760.1:p.Asp788His
ENST00000503569.5:c.2362G>C	ENSP00000423337.1:p.Asp788His
ENST00000507765.1:n.2547G>C
NM_001145853.1:c.2362G>C	NP_001139325.1:p.Asp788His
NM_006005.3:c.2362G>C MANE Select	NP_005996.2:p.Asp788His
XM_017008586.1:c.2371G>C	XP_016864075.1:p.Asp791His