Canonical Allele Identifier: CA356173944

Gene: WFS1

Linked Data

• dbSNP Id: rs1429681295
• MyVariant Identifiers: chr4:g.6302471A>C (hg19) ; chr4:g.6300744A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300744A>C , CM000666.2:g.6300744A>C	GRCh38
NC_000004.11:g.6302471A>C , CM000666.1:g.6302471A>C	GRCh37
NC_000004.10:g.6353372A>C	NCBI36
NG_011700.1:g.35895A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.985A>C	ENSP00000507852.1:p.Thr329Pro
ENST00000683395.1:c.926A>C
ENST00000684087.1:c.949A>C	ENSP00000506978.1:p.Thr317Pro
ENST00000506362.2:c.700A>C	ENSP00000424103.2:p.Thr234Pro
ENST00000673642.1:c.661-53A>C	ENSP00000501242.1:n.661-53A>C
ENST00000673991.1:c.985A>C	ENSP00000501033.1:p.Thr329Pro
ENST00000226760.5:c.949A>C MANE Select	ENSP00000226760.1:p.Thr317Pro
ENST00000503569.5:c.949A>C	ENSP00000423337.1:p.Thr317Pro
ENST00000506362.1:c.582A>C
ENST00000507765.1:n.1134A>C
ENST00000513395.1:n.507A>C
NM_001145853.1:c.949A>C	NP_001139325.1:p.Thr317Pro
NM_006005.3:c.949A>C MANE Select	NP_005996.2:p.Thr317Pro
XM_017008586.1:c.958A>C	XP_016864075.1:p.Thr320Pro