Canonical Allele Identifier: CA438211014

Gene: WFS1

Linked Data

• ClinVar Variation Id: 594594
• ClinVar RCV Id: RCV000729921
• dbSNP Id: rs954971844
• MyVariant Identifiers: chr4:g.6293078C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6291351C>G , CM000666.2:g.6291351C>G	GRCh38
NC_000004.11:g.6293078C>G , CM000666.1:g.6293078C>G	GRCh37
NC_000004.10:g.6343979C>G	NCBI36
NG_011700.1:g.26502C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682275.1:c.615C>G	ENSP00000507852.1:p.Gly205=
ENST00000683395.1:c.605C>G
ENST00000684087.1:c.615C>G	ENSP00000506978.1:p.Gly205=
ENST00000684700.1:c.615C>G	ENSP00000507806.1:p.Gly205=
ENST00000506362.2:c.366C>G	ENSP00000424103.2:p.Gly122=
ENST00000673642.1:c.414C>G	ENSP00000501242.1:p.Gly138=
ENST00000673991.1:c.615C>G	ENSP00000501033.1:p.Gly205=
ENST00000226760.5:c.615C>G MANE Select	ENSP00000226760.1:p.Gly205=
ENST00000503569.5:c.615C>G	ENSP00000423337.1:p.Gly205=
ENST00000506362.1:c.212C>G
ENST00000507765.1:n.800C>G
NM_001145853.1:c.615C>G	NP_001139325.1:p.Gly205=
NM_006005.3:c.615C>G MANE Select	NP_005996.2:p.Gly205=
XM_017008586.1:c.624C>G	XP_016864075.1:p.Gly208=