Canonical Allele Identifier: CA476144300
Community Standard Title: NM_012193.4(FZD4):c.1453T>C (p.Leu485=)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951303A>G , CM000673.2:g.86951303A>G GRCh38
NC_000011.9:g.86662345A>G , CM000673.1:g.86662345A>G GRCh37
NC_000011.8:g.86339993A>G NCBI36
NG_011752.1:g.9089T>C

Transcript Alleles

HGVS Amino-acid Change
NM_012193.4:c.1453T>C (FZD4) MANE Select NP_036325.2:p.Leu485=
ENST00000531380.2:c.1453T>C (FZD4) MANE Select ENSP00000434034.1:p.Leu485=
NM_012193.3:c.1453T>C (FZD4) NP_036325.2:p.Leu485=
NR_120591.1:n.968A>G (PRSS23)
NR_120591.2:n.666A>G (PRSS23)
NR_120591.3:n.666A>G (PRSS23)
NR_120592.1:n.717A>G (PRSS23)
NR_120592.2:n.415A>G (PRSS23)
ENST00000528769.5:n.360A>G (PRSS23)
ENST00000531380.1:c.1453T>C (FZD4) ENSP00000434034.1:p.Leu485=
ENST00000531521.1:n.474A>G (PRSS23)
ENST00000532234.5:c.*296A>G (PRSS23) ENSP00000436676.1:n.*296A>G
ENST00000533902.2:c.*18A>G (PRSS23) ENSP00000437268.1:n.*18A>G