Canonical Allele Identifier: CA356179723

Gene: WFS1

Linked Data

• gnomAD v4: 4-6302446-T-C
• MyVariant Identifiers: chr4:g.6304173T>C (hg19) ; chr4:g.6302446T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6302446T>C , CM000666.2:g.6302446T>C	GRCh38
NC_000004.11:g.6304173T>C , CM000666.1:g.6304173T>C	GRCh37
NC_000004.10:g.6355074T>C	NCBI36
NG_011700.1:g.37597T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.2687T>C	ENSP00000507852.1:p.Phe896Ser
ENST00000683395.1:c.2628T>C
ENST00000684087.1:c.2651T>C	ENSP00000506978.1:p.Phe884Ser
ENST00000506362.2:c.2402T>C	ENSP00000424103.2:p.Phe801Ser
ENST00000673991.1:c.2687T>C	ENSP00000501033.1:p.Phe896Ser
ENST00000226760.5:c.2651T>C MANE Select	ENSP00000226760.1:p.Phe884Ser
ENST00000503569.5:c.2651T>C	ENSP00000423337.1:p.Phe884Ser
ENST00000507765.1:n.2836T>C
NM_001145853.1:c.2651T>C	NP_001139325.1:p.Phe884Ser
NM_006005.3:c.2651T>C MANE Select	NP_005996.2:p.Phe884Ser
XM_017008586.1:c.2660T>C	XP_016864075.1:p.Phe887Ser