Canonical Allele Identifier: CA10621440

Gene: WFS1

Linked Data

• ClinVar Variation Id: 349323
• ClinVar RCV Id: RCV000298215 ; RCV000353840 ; RCV000916957 ; RCV003126694
• dbSNP Id: rs766900991
• gnomAD v3: 4-6301952-C-T
• gnomAD v4: 4-6301952-C-T
• MyVariant Identifiers: chr4:g.6303679C>T (hg19) ; chr4:g.6301952C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6301952C>T , CM000666.2:g.6301952C>T	GRCh38
NC_000004.11:g.6303679C>T , CM000666.1:g.6303679C>T	GRCh37
NC_000004.10:g.6354580C>T	NCBI36
NG_011700.1:g.37103C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2193C>T	ENSP00000507852.1:p.Ala731=
ENST00000683395.1:c.2134C>T
ENST00000684087.1:c.2157C>T	ENSP00000506978.1:p.Ala719=
ENST00000506362.2:c.1908C>T	ENSP00000424103.2:p.Ala636=
ENST00000673642.1:c.1816C>T	ENSP00000501242.1:n.1816C>T
ENST00000673991.1:c.2193C>T	ENSP00000501033.1:p.Ala731=
ENST00000226760.5:c.2157C>T MANE Select	ENSP00000226760.1:p.Ala719=
ENST00000503569.5:c.2157C>T	ENSP00000423337.1:p.Ala719=
ENST00000507765.1:n.2342C>T
NM_001145853.1:c.2157C>T	NP_001139325.1:p.Ala719=
NM_006005.3:c.2157C>T MANE Select	NP_005996.2:p.Ala719=
XM_017008586.1:c.2166C>T	XP_016864075.1:p.Ala722=