Canonical Allele Identifier: CA356173937

Gene: WFS1

Linked Data

• MyVariant Identifiers: chr4:g.6302466T>A (hg19) ; chr4:g.6300739T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300739T>A , CM000666.2:g.6300739T>A	GRCh38
NC_000004.11:g.6302466T>A , CM000666.1:g.6302466T>A	GRCh37
NC_000004.10:g.6353367T>A	NCBI36
NG_011700.1:g.35890T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.980T>A	ENSP00000507852.1:p.Leu327Gln
ENST00000683395.1:c.921T>A
ENST00000684087.1:c.944T>A	ENSP00000506978.1:p.Leu315Gln
ENST00000506362.2:c.695T>A	ENSP00000424103.2:p.Leu232Gln
ENST00000673642.1:c.661-58T>A	ENSP00000501242.1:n.661-58T>A
ENST00000673991.1:c.980T>A	ENSP00000501033.1:p.Leu327Gln
ENST00000226760.5:c.944T>A MANE Select	ENSP00000226760.1:p.Leu315Gln
ENST00000503569.5:c.944T>A	ENSP00000423337.1:p.Leu315Gln
ENST00000506362.1:c.577T>A
ENST00000507765.1:n.1129T>A
ENST00000513395.1:n.502T>A
NM_001145853.1:c.944T>A	NP_001139325.1:p.Leu315Gln
NM_006005.3:c.944T>A MANE Select	NP_005996.2:p.Leu315Gln
XM_017008586.1:c.953T>A	XP_016864075.1:p.Leu318Gln