Canonical Allele Identifier: CA2669843717

Gene: WFS1

Linked Data

• gnomAD v4: 4-6302685-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302685T>C , CM000666.2:g.6302685T>C	GRCh38
NC_000004.11:g.6304412T>C , CM000666.1:g.6304412T>C	GRCh37
NC_000004.10:g.6355313T>C	NCBI36
NG_011700.1:g.37836T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.*217T>C	ENSP00000507852.1:n.*217T>C
ENST00000683395.1:c.2867T>C
ENST00000684087.1:c.*217T>C	ENSP00000506978.1:n.*217T>C
ENST00000506362.2:c.*217T>C	ENSP00000424103.2:n.*217T>C
ENST00000673991.1:c.*217T>C	ENSP00000501033.1:n.*217T>C
ENST00000226760.5:c.*217T>C MANE Select	ENSP00000226760.1:n.*217T>C
ENST00000503569.5:c.*217T>C	ENSP00000423337.1:n.*217T>C
ENST00000507765.1:n.3075T>C
NM_001145853.1:c.*217T>C	NP_001139325.1:n.*217T>C
NM_006005.3:c.*217T>C MANE Select	NP_005996.2:n.*217T>C
XM_017008586.1:c.*217T>C	XP_016864075.1:n.*217T>C