Canonical Allele Identifier: CA2993893
Community Standard Title: NM_014991.6(WDFY3):c.1792C>T (p.Leu598Phe)
Gene: WDFY3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.84817487G>A , CM000666.2:g.84817487G>A GRCh38
NC_000004.11:g.85738640G>A , CM000666.1:g.85738640G>A GRCh37
NC_000004.10:g.85957664G>A NCBI36
NG_046917.1:g.153905C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014991.6:c.1792C>T MANE Select NP_055806.2:p.Leu598Phe
ENST00000295888.9:c.1792C>T MANE Select ENSP00000295888.4:p.Leu598Phe
NM_014991.4:c.1792C>T NP_055806.2:p.Leu598Phe
NM_014991.5:c.1792C>T NP_055806.2:p.Leu598Phe
ENST00000295888.8:c.1792C>T ENSP00000295888.4:p.Leu598Phe
ENST00000426414.6:n.1854C>T
ENST00000514711.2:c.328C>T ENSP00000424987.2:p.Leu110Phe
XM_005262858.3:c.1846C>T XP_005262915.1:p.Leu616Phe
XM_005262858.5:c.1846C>T XP_005262915.1:p.Leu616Phe
XM_011531757.1:c.1846C>T XP_011530059.1:p.Leu616Phe
XM_011531757.3:c.1846C>T XP_011530059.1:p.Leu616Phe
XM_011531758.1:c.1846C>T XP_011530060.1:p.Leu616Phe
XM_011531759.1:c.1846C>T XP_011530061.1:p.Leu616Phe
XM_011531759.2:c.1846C>T XP_011530061.1:p.Leu616Phe
XM_011531760.1:c.1846C>T XP_011530062.1:p.Leu616Phe
XM_011531760.3:c.1846C>T XP_011530062.1:p.Leu616Phe
XM_011531761.1:c.1846C>T XP_011530063.1:p.Leu616Phe
XM_011531761.3:c.1846C>T XP_011530063.1:p.Leu616Phe
XM_011531762.1:c.1846C>T XP_011530064.1:p.Leu616Phe
XM_011531762.3:c.1846C>T XP_011530064.1:p.Leu616Phe
XM_011531763.1:c.1792C>T XP_011530065.1:p.Leu598Phe
XM_011531763.3:c.1792C>T XP_011530065.1:p.Leu598Phe
XM_011531764.1:c.1846C>T XP_011530066.1:p.Leu616Phe
XM_011531764.3:c.1846C>T XP_011530066.1:p.Leu616Phe
XM_011531765.1:c.1792C>T XP_011530067.1:p.Leu598Phe
XM_011531765.3:c.1792C>T XP_011530067.1:p.Leu598Phe
XM_011531766.1:c.1846C>T XP_011530068.1:p.Leu616Phe
XM_011531766.2:c.1846C>T XP_011530068.1:p.Leu616Phe
XM_011531767.1:c.1846C>T XP_011530069.1:p.Leu616Phe
XM_011531767.2:c.1846C>T XP_011530069.1:p.Leu616Phe
XM_017007906.2:c.1846C>T XP_016863395.1:p.Leu616Phe
XM_017007907.2:c.1846C>T XP_016863396.1:p.Leu616Phe
XM_017007908.2:c.1846C>T XP_016863397.1:p.Leu616Phe