Canonical Allele Identifier: CA549423265

Gene: WFS1

Linked Data

• dbSNP Id: rs1209281995
• gnomAD v2: 4-6293727-G-C
• gnomAD v4: 4-6292000-G-C
• MyVariant Identifiers: chr4:g.6293727G>C (hg19) ; chr4:g.6292000G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6292000G>C , CM000666.2:g.6292000G>C	GRCh38
NC_000004.11:g.6293727G>C , CM000666.1:g.6293727G>C	GRCh37
NC_000004.10:g.6344628G>C	NCBI36
NG_011700.1:g.27151G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.712+3G>C	ENSP00000507852.1:n.712+3G>C
ENST00000683395.1:c.689+3G>C
ENST00000684087.1:c.712+3G>C	ENSP00000506978.1:n.712+3G>C
ENST00000506362.2:c.463+3G>C	ENSP00000424103.2:n.463+3G>C
ENST00000673642.1:c.511+3G>C	ENSP00000501242.1:n.511+3G>C
ENST00000673991.1:c.712+3G>C	ENSP00000501033.1:n.712+3G>C
ENST00000226760.5:c.712+3G>C MANE Select	ENSP00000226760.1:n.712+3G>C
ENST00000503569.5:c.712+3G>C	ENSP00000423337.1:n.712+3G>C
ENST00000506362.1:c.309+3G>C
ENST00000507765.1:n.897+3G>C
NM_001145853.1:c.712+3G>C	NP_001139325.1:n.712+3G>C
NM_006005.3:c.712+3G>C MANE Select	NP_005996.2:n.712+3G>C
XM_017008586.1:c.721+3G>C	XP_016864075.1:n.721+3G>C