Canonical Allele Identifier: CA356179162

Gene: WFS1

Linked Data

• dbSNP Id: rs1470898850
• gnomAD v2: 4-6304059-G-C
• gnomAD v4: 4-6302332-G-C
• MyVariant Identifiers: chr4:g.6304059G>C (hg19) ; chr4:g.6302332G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302332G>C , CM000666.2:g.6302332G>C	GRCh38
NC_000004.11:g.6304059G>C , CM000666.1:g.6304059G>C	GRCh37
NC_000004.10:g.6354960G>C	NCBI36
NG_011700.1:g.37483G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2573G>C	ENSP00000507852.1:p.Ser858Thr
ENST00000683395.1:c.2514G>C
ENST00000684087.1:c.2537G>C	ENSP00000506978.1:p.Ser846Thr
ENST00000506362.2:c.2288G>C	ENSP00000424103.2:p.Ser763Thr
ENST00000673991.1:c.2573G>C	ENSP00000501033.1:p.Ser858Thr
ENST00000226760.5:c.2537G>C MANE Select	ENSP00000226760.1:p.Ser846Thr
ENST00000503569.5:c.2537G>C	ENSP00000423337.1:p.Ser846Thr
ENST00000507765.1:n.2722G>C
NM_001145853.1:c.2537G>C	NP_001139325.1:p.Ser846Thr
NM_006005.3:c.2537G>C MANE Select	NP_005996.2:p.Ser846Thr
XM_017008586.1:c.2546G>C	XP_016864075.1:p.Ser849Thr