Canonical Allele Identifier: CA356172188

Gene: WFS1

Linked Data

• MyVariant Identifiers: chr4:g.6293095G>C (hg19) ; chr4:g.6291368G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291368G>C , CM000666.2:g.6291368G>C	GRCh38
NC_000004.11:g.6293095G>C , CM000666.1:g.6293095G>C	GRCh37
NC_000004.10:g.6343996G>C	NCBI36
NG_011700.1:g.26519G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.631+1G>C	ENSP00000507852.1:n.631+1G>C
ENST00000683395.1:c.608+14G>C
ENST00000684087.1:c.631+1G>C	ENSP00000506978.1:n.631+1G>C
ENST00000684700.1:c.632G>C	ENSP00000507806.1:p.Gly211Ala
ENST00000506362.2:c.382+1G>C	ENSP00000424103.2:n.382+1G>C
ENST00000673642.1:c.430+1G>C	ENSP00000501242.1:n.430+1G>C
ENST00000673991.1:c.631+1G>C	ENSP00000501033.1:n.631+1G>C
ENST00000226760.5:c.631+1G>C MANE Select	ENSP00000226760.1:n.631+1G>C
ENST00000503569.5:c.631+1G>C	ENSP00000423337.1:n.631+1G>C
ENST00000506362.1:c.228+1G>C
ENST00000507765.1:n.816+1G>C
NM_001145853.1:c.631+1G>C	NP_001139325.1:n.631+1G>C
NM_006005.3:c.631+1G>C MANE Select	NP_005996.2:n.631+1G>C
XM_017008586.1:c.640+1G>C	XP_016864075.1:n.640+1G>C