Canonical Allele Identifier: CA2993552
Community Standard Title: NM_014991.6(WDFY3):c.3172C>G (p.Leu1058Val)
Gene: WDFY3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.84794975G>C , CM000666.2:g.84794975G>C GRCh38
NC_000004.11:g.85716128G>C , CM000666.1:g.85716128G>C GRCh37
NC_000004.10:g.85935152G>C NCBI36
NG_046917.1:g.176417C>G

Transcript Alleles

HGVS Amino-acid Change
NM_014991.6:c.3172C>G MANE Select NP_055806.2:p.Leu1058Val
ENST00000295888.9:c.3172C>G MANE Select ENSP00000295888.4:p.Leu1058Val
NM_014991.4:c.3172C>G NP_055806.2:p.Leu1058Val
NM_014991.5:c.3172C>G NP_055806.2:p.Leu1058Val
ENST00000295888.8:c.3172C>G ENSP00000295888.4:p.Leu1058Val
ENST00000514711.2:c.1708C>G ENSP00000424987.2:p.Leu570Val
XM_005262858.3:c.3226C>G XP_005262915.1:p.Leu1076Val
XM_005262858.5:c.3226C>G XP_005262915.1:p.Leu1076Val
XM_011531757.1:c.3226C>G XP_011530059.1:p.Leu1076Val
XM_011531757.3:c.3226C>G XP_011530059.1:p.Leu1076Val
XM_011531758.1:c.3226C>G XP_011530060.1:p.Leu1076Val
XM_011531759.1:c.3226C>G XP_011530061.1:p.Leu1076Val
XM_011531759.2:c.3226C>G XP_011530061.1:p.Leu1076Val
XM_011531760.1:c.3226C>G XP_011530062.1:p.Leu1076Val
XM_011531760.3:c.3226C>G XP_011530062.1:p.Leu1076Val
XM_011531761.1:c.3226C>G XP_011530063.1:p.Leu1076Val
XM_011531761.3:c.3226C>G XP_011530063.1:p.Leu1076Val
XM_011531762.1:c.3226C>G XP_011530064.1:p.Leu1076Val
XM_011531762.3:c.3226C>G XP_011530064.1:p.Leu1076Val
XM_011531763.1:c.3172C>G XP_011530065.1:p.Leu1058Val
XM_011531763.3:c.3172C>G XP_011530065.1:p.Leu1058Val
XM_011531764.1:c.3142C>G XP_011530066.1:p.Leu1048Val
XM_011531764.3:c.3142C>G XP_011530066.1:p.Leu1048Val
XM_011531765.1:c.3172C>G XP_011530067.1:p.Leu1058Val
XM_011531765.3:c.3172C>G XP_011530067.1:p.Leu1058Val
XM_011531766.1:c.3226C>G XP_011530068.1:p.Leu1076Val
XM_011531766.2:c.3226C>G XP_011530068.1:p.Leu1076Val
XM_011531767.1:c.3226C>G XP_011530069.1:p.Leu1076Val
XM_011531767.2:c.3226C>G XP_011530069.1:p.Leu1076Val
XM_017007906.2:c.3226C>G XP_016863395.1:p.Leu1076Val
XM_017007907.2:c.3226C>G XP_016863396.1:p.Leu1076Val
XM_017007908.2:c.3226C>G XP_016863397.1:p.Leu1076Val
XM_017007909.1:c.1192C>G XP_016863398.1:p.Leu398Val