Canonical Allele Identifier: CA382014484
Community Standard Title: NM_012193.4(FZD4):c.766A>C (p.Ile256Leu)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951990T>G , CM000673.2:g.86951990T>G GRCh38
NC_000011.9:g.86663032T>G , CM000673.1:g.86663032T>G GRCh37
NC_000011.8:g.86340680T>G NCBI36
NG_011752.1:g.8402A>C

Transcript Alleles

HGVS Amino-acid Change
NM_012193.4:c.766A>C (FZD4) MANE Select NP_036325.2:p.Ile256Leu
ENST00000531380.2:c.766A>C (FZD4) MANE Select ENSP00000434034.1:p.Ile256Leu
NM_012193.3:c.766A>C (FZD4) NP_036325.2:p.Ile256Leu
NR_120591.1:n.1655T>G (PRSS23)
NR_120591.2:n.1353T>G (PRSS23)
NR_120591.3:n.1353T>G (PRSS23)
NR_120592.1:n.1404T>G (PRSS23)
NR_120592.2:n.1102T>G (PRSS23)
ENST00000531380.1:c.766A>C (FZD4) ENSP00000434034.1:p.Ile256Leu
ENST00000532234.5:c.*983T>G (PRSS23) ENSP00000436676.1:n.*983T>G
ENST00000533902.2:c.*705T>G (PRSS23) ENSP00000437268.1:n.*705T>G