Canonical Allele Identifier: CA357552499
Community Standard Title: NM_014991.6(WDFY3):c.6619C>G (p.Leu2207Val)
Gene: WDFY3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.84737322G>C , CM000666.2:g.84737322G>C GRCh38
NC_000004.11:g.85658475G>C , CM000666.1:g.85658475G>C GRCh37
NC_000004.10:g.85877499G>C NCBI36
NG_046917.1:g.234070C>G

Transcript Alleles

HGVS Amino-acid Change
NM_014991.6:c.6619C>G MANE Select NP_055806.2:p.Leu2207Val
ENST00000295888.9:c.6619C>G MANE Select ENSP00000295888.4:p.Leu2207Val
NM_014991.4:c.6619C>G NP_055806.2:p.Leu2207Val
NM_014991.5:c.6619C>G NP_055806.2:p.Leu2207Val
ENST00000295888.8:c.6619C>G ENSP00000295888.4:p.Leu2207Val
ENST00000504839.1:n.366C>G
ENST00000514711.2:c.5110C>G ENSP00000424987.2:p.Leu1704Val
XM_005262858.3:c.6673C>G XP_005262915.1:p.Leu2225Val
XM_005262858.5:c.6673C>G XP_005262915.1:p.Leu2225Val
XM_011531757.1:c.6673C>G XP_011530059.1:p.Leu2225Val
XM_011531757.3:c.6673C>G XP_011530059.1:p.Leu2225Val
XM_011531758.1:c.6673C>G XP_011530060.1:p.Leu2225Val
XM_011531759.1:c.6673C>G XP_011530061.1:p.Leu2225Val
XM_011531759.2:c.6673C>G XP_011530061.1:p.Leu2225Val
XM_011531760.1:c.6673C>G XP_011530062.1:p.Leu2225Val
XM_011531760.3:c.6673C>G XP_011530062.1:p.Leu2225Val
XM_011531761.1:c.6628C>G XP_011530063.1:p.Leu2210Val
XM_011531761.3:c.6628C>G XP_011530063.1:p.Leu2210Val
XM_011531762.1:c.6673C>G XP_011530064.1:p.Leu2225Val
XM_011531762.3:c.6673C>G XP_011530064.1:p.Leu2225Val
XM_011531763.1:c.6619C>G XP_011530065.1:p.Leu2207Val
XM_011531763.3:c.6619C>G XP_011530065.1:p.Leu2207Val
XM_011531764.1:c.6589C>G XP_011530066.1:p.Leu2197Val
XM_011531764.3:c.6589C>G XP_011530066.1:p.Leu2197Val
XM_011531765.1:c.6619C>G XP_011530067.1:p.Leu2207Val
XM_011531765.3:c.6619C>G XP_011530067.1:p.Leu2207Val
XM_011531766.1:c.6673C>G XP_011530068.1:p.Leu2225Val
XM_011531766.2:c.6673C>G XP_011530068.1:p.Leu2225Val
XM_017007906.2:c.6673C>G XP_016863395.1:p.Leu2225Val
XM_017007907.2:c.6673C>G XP_016863396.1:p.Leu2225Val
XM_017007908.2:c.6673C>G XP_016863397.1:p.Leu2225Val
XM_017007909.1:c.4639C>G XP_016863398.1:p.Leu1547Val