Canonical Allele Identifier: CA356172009

Gene: WFS1

Linked Data

• MyVariant Identifiers: chr4:g.6293013T>C (hg19) ; chr4:g.6291286T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291286T>C , CM000666.2:g.6291286T>C	GRCh38
NC_000004.11:g.6293013T>C , CM000666.1:g.6293013T>C	GRCh37
NC_000004.10:g.6343914T>C	NCBI36
NG_011700.1:g.26437T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.550T>C	ENSP00000507852.1:p.Tyr184His
ENST00000683395.1:c.540T>C
ENST00000684087.1:c.550T>C	ENSP00000506978.1:p.Tyr184His
ENST00000684700.1:c.550T>C	ENSP00000507806.1:p.Tyr184His
ENST00000506362.2:c.301T>C	ENSP00000424103.2:p.Tyr101His
ENST00000673642.1:c.349T>C	ENSP00000501242.1:p.Tyr117His
ENST00000673991.1:c.550T>C	ENSP00000501033.1:p.Tyr184His
ENST00000674051.1:c.424T>C	ENSP00000501083.1:p.Tyr142His
ENST00000226760.5:c.550T>C MANE Select	ENSP00000226760.1:p.Tyr184His
ENST00000503569.5:c.550T>C	ENSP00000423337.1:p.Tyr184His
ENST00000506362.1:c.147T>C
ENST00000507765.1:n.735T>C
NM_001145853.1:c.550T>C	NP_001139325.1:p.Tyr184His
NM_006005.3:c.550T>C MANE Select	NP_005996.2:p.Tyr184His
XM_017008586.1:c.559T>C	XP_016864075.1:p.Tyr187His