Canonical Allele Identifier: CA91798146
Gene: WFS1 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.6302617G>T
GRCh37 chr4:g.6304344G>T
gnomAD v3:
4:6302617 G / T
gnomAD v4:
chr4-6302617-G-T
Joint Max Group AF 0.00000507 (AFR)
Genomes Max Group AF 0.00000802 (AFR)
Exomes Max Group AF 0.00000538 (SAS)
dbSNP:
1046320
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.6302617G>T , CM000666.2:g.6302617G>T GRCh38
NC_000004.11:g.6304344G>T , CM000666.1:g.6304344G>T GRCh37
NC_000004.10:g.6355245G>T NCBI36
NG_011700.1:g.37768G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682275.1:c.*149G>T ENSP00000507852.1:n.*149G>T
ENST00000683395.1:c.2799G>T
ENST00000684087.1:c.*149G>T ENSP00000506978.1:n.*149G>T
ENST00000506362.2:c.*149G>T ENSP00000424103.2:n.*149G>T
ENST00000673991.1:c.*149G>T ENSP00000501033.1:n.*149G>T
ENST00000226760.5:c.*149G>T MANE Select ENSP00000226760.1:n.*149G>T
ENST00000503569.5:c.*149G>T ENSP00000423337.1:n.*149G>T
ENST00000507765.1:n.3007G>T
NM_001145853.1:c.*149G>T NP_001139325.1:n.*149G>T
NM_006005.3:c.*149G>T MANE Select NP_005996.2:n.*149G>T
XM_017008586.1:c.*149G>T XP_016864075.1:n.*149G>T
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