Canonical Allele Identifier: CA356176641

Gene: WFS1

Linked Data

• dbSNP Id: rs1337401471
• gnomAD v2: 4-6303242-G-C
• gnomAD v4: 4-6301515-G-C
• MyVariant Identifiers: chr4:g.6303242G>C (hg19) ; chr4:g.6301515G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301515G>C , CM000666.2:g.6301515G>C	GRCh38
NC_000004.11:g.6303242G>C , CM000666.1:g.6303242G>C	GRCh37
NC_000004.10:g.6354143G>C	NCBI36
NG_011700.1:g.36666G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.1756G>C	ENSP00000507852.1:p.Val586Leu
ENST00000683395.1:c.1697G>C
ENST00000684087.1:c.1720G>C	ENSP00000506978.1:p.Val574Leu
ENST00000506362.2:c.1471G>C	ENSP00000424103.2:p.Val491Leu
ENST00000673642.1:c.1379G>C	ENSP00000501242.1:n.1379G>C
ENST00000673991.1:c.1756G>C	ENSP00000501033.1:p.Val586Leu
ENST00000226760.5:c.1720G>C MANE Select	ENSP00000226760.1:p.Val574Leu
ENST00000503569.5:c.1720G>C	ENSP00000423337.1:p.Val574Leu
ENST00000507765.1:n.1905G>C
NM_001145853.1:c.1720G>C	NP_001139325.1:p.Val574Leu
NM_006005.3:c.1720G>C MANE Select	NP_005996.2:p.Val574Leu
XM_017008586.1:c.1729G>C	XP_016864075.1:p.Val577Leu