Canonical Allele Identifier: CA356171916

Gene: WFS1

Linked Data

• MyVariant Identifiers: chr4:g.6292965T>C (hg19) ; chr4:g.6291238T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291238T>C , CM000666.2:g.6291238T>C	GRCh38
NC_000004.11:g.6292965T>C , CM000666.1:g.6292965T>C	GRCh37
NC_000004.10:g.6343866T>C	NCBI36
NG_011700.1:g.26389T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.502T>C	ENSP00000507852.1:p.Ser168Pro
ENST00000683395.1:c.492T>C
ENST00000684087.1:c.502T>C	ENSP00000506978.1:p.Ser168Pro
ENST00000684700.1:c.502T>C	ENSP00000507806.1:p.Ser168Pro
ENST00000506362.2:c.253T>C	ENSP00000424103.2:p.Ser85Pro
ENST00000673642.1:c.301T>C	ENSP00000501242.1:p.Ser101Pro
ENST00000673991.1:c.502T>C	ENSP00000501033.1:p.Ser168Pro
ENST00000674051.1:c.376T>C	ENSP00000501083.1:p.Ser126Pro
ENST00000226760.5:c.502T>C MANE Select	ENSP00000226760.1:p.Ser168Pro
ENST00000503569.5:c.502T>C	ENSP00000423337.1:p.Ser168Pro
ENST00000506362.1:c.99T>C
ENST00000507765.1:n.687T>C
NM_001145853.1:c.502T>C	NP_001139325.1:p.Ser168Pro
NM_006005.3:c.502T>C MANE Select	NP_005996.2:p.Ser168Pro
XM_017008586.1:c.511T>C	XP_016864075.1:p.Ser171Pro