Canonical Allele Identifier: CA356173778

Gene: WFS1

Linked Data

• gnomAD v4: 4-6300661-T-G
• MyVariant Identifiers: chr4:g.6302388T>G (hg19) ; chr4:g.6300661T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6300661T>G , CM000666.2:g.6300661T>G	GRCh38
NC_000004.11:g.6302388T>G , CM000666.1:g.6302388T>G	GRCh37
NC_000004.10:g.6353289T>G	NCBI36
NG_011700.1:g.35812T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.902T>G	ENSP00000507852.1:p.Val301Gly
ENST00000683395.1:c.843T>G
ENST00000684087.1:c.866T>G	ENSP00000506978.1:p.Val289Gly
ENST00000506362.2:c.617T>G	ENSP00000424103.2:p.Val206Gly
ENST00000673642.1:c.661-136T>G	ENSP00000501242.1:n.661-136T>G
ENST00000673991.1:c.902T>G	ENSP00000501033.1:p.Val301Gly
ENST00000226760.5:c.866T>G MANE Select	ENSP00000226760.1:p.Val289Gly
ENST00000503569.5:c.866T>G	ENSP00000423337.1:p.Val289Gly
ENST00000506362.1:c.499T>G
ENST00000507765.1:n.1051T>G
ENST00000513395.1:n.424T>G
NM_001145853.1:c.866T>G	NP_001139325.1:p.Val289Gly
NM_006005.3:c.866T>G MANE Select	NP_005996.2:p.Val289Gly
XM_017008586.1:c.875T>G	XP_016864075.1:p.Val292Gly