Canonical Allele Identifier: CA438368333

Gene: WFS1

Linked Data

• dbSNP Id: rs1368710970
• gnomAD v2: 4-6304009-G-C
• gnomAD v4: 4-6302282-G-C
• MyVariant Identifiers: chr4:g.6304009G>C (hg19) ; chr4:g.6302282G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302282G>C , CM000666.2:g.6302282G>C	GRCh38
NC_000004.11:g.6304009G>C , CM000666.1:g.6304009G>C	GRCh37
NC_000004.10:g.6354910G>C	NCBI36
NG_011700.1:g.37433G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2523G>C	ENSP00000507852.1:p.Leu841=
ENST00000683395.1:c.2464G>C
ENST00000684087.1:c.2487G>C	ENSP00000506978.1:p.Leu829=
ENST00000506362.2:c.2238G>C	ENSP00000424103.2:p.Leu746=
ENST00000673991.1:c.2523G>C	ENSP00000501033.1:p.Leu841=
ENST00000226760.5:c.2487G>C MANE Select	ENSP00000226760.1:p.Leu829=
ENST00000503569.5:c.2487G>C	ENSP00000423337.1:p.Leu829=
ENST00000507765.1:n.2672G>C
NM_001145853.1:c.2487G>C	NP_001139325.1:p.Leu829=
NM_006005.3:c.2487G>C MANE Select	NP_005996.2:p.Leu829=
XM_017008586.1:c.2496G>C	XP_016864075.1:p.Leu832=