Linked Data
ClinVar Variation Id:
2712232
ClinVar RCV Id:
RCV003545717
dbSNP Id:
rs1020794222
gnomAD v2:
4-85723016-T-A
gnomAD v3:
4-84801863-T-A
gnomAD v4:
4-84801863-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.84801863T>A , CM000666.2:g.84801863T>A | GRCh38 |
| NC_000004.11:g.85723016T>A , CM000666.1:g.85723016T>A | GRCh37 |
| NC_000004.10:g.85942040T>A | NCBI36 |
| NG_046917.1:g.169529A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000514711.2:c.1145A>T (WDFY3) | ENSP00000424987.2:p.His382Leu | |
| ENST00000295888.9:c.2609A>T (WDFY3) MANE Select | ENSP00000295888.4:p.His870Leu | |
| ENST00000295888.8:c.2609A>T (WDFY3) | ENSP00000295888.4:p.His870Leu | |
| ENST00000505923.5:n.401A>T (WDFY3) | ||
| ENST00000512267.1:n.472A>T (WDFY3) | ||
| NM_014991.4:c.2609A>T (WDFY3) | NP_055806.2:p.His870Leu | |
| XM_005262858.3:c.2663A>T (WDFY3) | XP_005262915.1:p.His888Leu | |
| XM_011531757.1:c.2663A>T (WDFY3) | XP_011530059.1:p.His888Leu | |
| XM_011531758.1:c.2663A>T (WDFY3) | XP_011530060.1:p.His888Leu | |
| XM_011531759.1:c.2663A>T (WDFY3) | XP_011530061.1:p.His888Leu | |
| XM_011531760.1:c.2663A>T (WDFY3) | XP_011530062.1:p.His888Leu | |
| XM_011531761.1:c.2663A>T (WDFY3) | XP_011530063.1:p.His888Leu | |
| XM_011531762.1:c.2663A>T (WDFY3) | XP_011530064.1:p.His888Leu | |
| XM_011531763.1:c.2609A>T (WDFY3) | XP_011530065.1:p.His870Leu | |
| XM_011531764.1:c.2579A>T (WDFY3) | XP_011530066.1:p.His860Leu | |
| XM_011531765.1:c.2609A>T (WDFY3) | XP_011530067.1:p.His870Leu | |
| XM_011531766.1:c.2663A>T (WDFY3) | XP_011530068.1:p.His888Leu | |
| XM_011531767.1:c.2663A>T (WDFY3) | XP_011530069.1:p.His888Leu | |
| XM_005262858.5:c.2663A>T (WDFY3) | XP_005262915.1:p.His888Leu | |
| XM_011531757.3:c.2663A>T (WDFY3) | XP_011530059.1:p.His888Leu | |
| XM_011531759.2:c.2663A>T (WDFY3) | XP_011530061.1:p.His888Leu | |
| XM_011531760.3:c.2663A>T (WDFY3) | XP_011530062.1:p.His888Leu | |
| XM_011531761.3:c.2663A>T (WDFY3) | XP_011530063.1:p.His888Leu | |
| XM_011531762.3:c.2663A>T (WDFY3) | XP_011530064.1:p.His888Leu | |
| XM_011531763.3:c.2609A>T (WDFY3) | XP_011530065.1:p.His870Leu | |
| XM_011531764.3:c.2579A>T (WDFY3) | XP_011530066.1:p.His860Leu | |
| XM_011531765.3:c.2609A>T (WDFY3) | XP_011530067.1:p.His870Leu | |
| XM_011531766.2:c.2663A>T (WDFY3) | XP_011530068.1:p.His888Leu | |
| XM_011531767.2:c.2663A>T (WDFY3) | XP_011530069.1:p.His888Leu | |
| XM_017007906.2:c.2663A>T (WDFY3) | XP_016863395.1:p.His888Leu | |
| XM_017007907.2:c.2663A>T (WDFY3) | XP_016863396.1:p.His888Leu | |
| XM_017007908.2:c.2663A>T (WDFY3) | XP_016863397.1:p.His888Leu | |
| XM_017007909.1:c.629A>T (WDFY3) | XP_016863398.1:p.His210Leu | |
| NM_014991.5:c.2609A>T (WDFY3) | NP_055806.2:p.His870Leu | |
| NM_014991.6:c.2609A>T (WDFY3) MANE Select | NP_055806.2:p.His870Leu | |
| NR_046707.1:n.91-1397T>A (WDFY3-AS1) |