Canonical Allele Identifier: CA356177180

Gene: WFS1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301756C>G , CM000666.2:g.6301756C>G	GRCh38
NC_000004.11:g.6303483C>G , CM000666.1:g.6303483C>G	GRCh37
NC_000004.10:g.6354384C>G	NCBI36
NG_011700.1:g.36907C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006005.3:c.1961C>G MANE Select	NP_005996.2:p.Ser654Ter
ENST00000226760.5:c.1961C>G MANE Select	ENSP00000226760.1:p.Ser654Ter
NM_001145853.1:c.1961C>G	NP_001139325.1:p.Ser654Ter
ENST00000503569.5:c.1961C>G	ENSP00000423337.1:p.Ser654Ter
ENST00000506362.2:c.1712C>G	ENSP00000424103.2:p.Ser571Ter
ENST00000507765.1:n.2146C>G
ENST00000673642.1:c.1620C>G	ENSP00000501242.1:n.1620C>G
ENST00000673991.1:c.1997C>G	ENSP00000501033.1:p.Ser666Ter
ENST00000682275.1:c.1997C>G	ENSP00000507852.1:p.Ser666Ter
ENST00000683395.1:c.1938C>G
ENST00000684087.1:c.1961C>G	ENSP00000506978.1:p.Ser654Ter
XM_017008586.1:c.1970C>G	XP_016864075.1:p.Ser657Ter