Canonical Allele Identifier: CA10621499

Gene: WFS1

Linked Data

• ClinVar Variation Id: 349355
• ClinVar RCV Id: RCV000305800 ; RCV000403148 ; RCV003126711
• dbSNP Id: rs886059538
• gnomAD v2: 4-6304800-T-C
• gnomAD v3: 4-6303073-T-C
• gnomAD v4: 4-6303073-T-C
• MyVariant Identifiers: chr4:g.6304800T>C (hg19) ; chr4:g.6303073T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.6303073T>C , CM000666.2:g.6303073T>C	GRCh38
NC_000004.11:g.6304800T>C , CM000666.1:g.6304800T>C	GRCh37
NC_000004.10:g.6355701T>C	NCBI36
NG_011700.1:g.38224T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682275.1:c.*605T>C	ENSP00000507852.1:n.*605T>C
ENST00000683395.1:c.3255T>C
ENST00000684087.1:c.*605T>C	ENSP00000506978.1:n.*605T>C
ENST00000673991.1:c.*605T>C	ENSP00000501033.1:n.*605T>C
ENST00000226760.5:c.*605T>C MANE Select	ENSP00000226760.1:n.*605T>C
ENST00000507765.1:n.3463T>C
NM_001145853.1:c.*605T>C	NP_001139325.1:n.*605T>C
NM_006005.3:c.*605T>C MANE Select	NP_005996.2:n.*605T>C
XM_017008586.1:c.*605T>C	XP_016864075.1:n.*605T>C
XR_001741566.2:n.1872A>G