Canonical Allele Identifier: CA356174129

Gene: WFS1

Linked Data

• dbSNP Id: rs1456701567
• gnomAD v2: 4-6302562-T-C
• gnomAD v4: 4-6300835-T-C
• MyVariant Identifiers: chr4:g.6302562T>C (hg19) ; chr4:g.6300835T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300835T>C , CM000666.2:g.6300835T>C	GRCh38
NC_000004.11:g.6302562T>C , CM000666.1:g.6302562T>C	GRCh37
NC_000004.10:g.6353463T>C	NCBI36
NG_011700.1:g.35986T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.1076T>C	ENSP00000507852.1:p.Leu359Pro
ENST00000683395.1:c.1017T>C
ENST00000684087.1:c.1040T>C	ENSP00000506978.1:p.Leu347Pro
ENST00000506362.2:c.791T>C	ENSP00000424103.2:p.Leu264Pro
ENST00000673642.1:c.699T>C	ENSP00000501242.1:p.Ala233=
ENST00000673991.1:c.1076T>C	ENSP00000501033.1:p.Leu359Pro
ENST00000226760.5:c.1040T>C MANE Select	ENSP00000226760.1:p.Leu347Pro
ENST00000503569.5:c.1040T>C	ENSP00000423337.1:p.Leu347Pro
ENST00000506362.1:c.673T>C
ENST00000507765.1:n.1225T>C
NM_001145853.1:c.1040T>C	NP_001139325.1:p.Leu347Pro
NM_006005.3:c.1040T>C MANE Select	NP_005996.2:p.Leu347Pro
XM_017008586.1:c.1049T>C	XP_016864075.1:p.Leu350Pro