Canonical Allele Identifier: CA2400336591
Community Standard Title: NM_001206998.2(ZNRF3):c.300+20252C=
Gene: ZNRF3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.28904318C= , CM000684.2:g.28904318C= GRCh38
NC_000022.10:g.29300306C= , CM000684.1:g.29300306C= GRCh37
NC_000022.9:g.27630306C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001206998.2:c.300+20252C= MANE Select NP_001193927.1:n.300+20252C=
ENST00000544604.7:c.300+20252C= MANE Select ENSP00000443824.2:n.300+20252C=
NM_001206998.1:c.300+20252C= NP_001193927.1:n.300+20252C=
ENST00000544604.6:c.300+20252C= ENSP00000443824.2:n.300+20252C=
XM_011530434.1:c.48+19207C= XP_011528736.1:n.48+19207C=
XM_011530435.1:c.15+82139C= XP_011528737.1:n.15+82139C=
XM_011530435.2:c.15+82139C= XP_011528737.1:n.15+82139C=
XM_011530436.1:c.15+82139C= XP_011528738.1:n.15+82139C=
XM_011530436.3:c.15+82139C= XP_011528738.1:n.15+82139C=
XM_011530437.1:c.15+82139C= XP_011528739.1:n.15+82139C=
XM_011530438.1:c.15+82139C= XP_011528740.1:n.15+82139C=
XM_011530438.2:c.15+82139C= XP_011528740.1:n.15+82139C=
XM_011530440.1:c.-1+19288C= XP_011528742.1:n.-1+19288C=
XM_017028990.1:c.15+82139C= XP_016884479.1:n.15+82139C=