Canonical Allele Identifier: CA9902036
Community Standard Title: NM_021035.3(ZNFX1):c.3469C>G (p.Leu1157Val)
Gene: ZNFX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49249555G>C , CM000682.2:g.49249555G>C GRCh38
NC_000020.10:g.47866092G>C , CM000682.1:g.47866092G>C GRCh37
NC_000020.9:g.47299499G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_021035.3:c.3469C>G MANE Select NP_066363.1:p.Leu1157Val
ENST00000396105.6:c.3469C>G MANE Select ENSP00000379412.1:p.Leu1157Val
NM_021035.2:c.3469C>G NP_066363.1:p.Leu1157Val
ENST00000371752.5:c.3469C>G ENSP00000360817.1:p.Leu1157Val
ENST00000371754.8:c.3312+1972C>G ENSP00000360819.4:n.3312+1972C>G
ENST00000396105.5:c.3469C>G ENSP00000379412.1:p.Leu1157Val
XM_006723836.1:c.3469C>G XP_006723899.1:p.Leu1157Val
XM_011528924.1:c.3319C>G XP_011527226.1:p.Leu1107Val
XM_011528924.2:c.3319C>G XP_011527226.1:p.Leu1107Val
XM_017027971.1:c.1315C>G XP_016883460.1:p.Leu439Val