Canonical Allele Identifier: CA382012044

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951478C>G , CM000673.2:g.86951478C>G GRCh38
NC_000011.9:g.86662520C>G , CM000673.1:g.86662520C>G GRCh37
NC_000011.8:g.86340168C>G NCBI36
NG_011752.1:g.8914G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.1278G>C (FZD4) MANE Select ENSP00000434034.1:p.Lys426Asn
ENST00000531380.1:c.1278G>C (FZD4) ENSP00000434034.1:p.Lys426Asn
ENST00000531521.1:n.649C>G (PRSS23)
ENST00000532234.5:c.*471C>G (PRSS23) ENSP00000436676.1:n.*471C>G
ENST00000533902.2:c.*193C>G (PRSS23) ENSP00000437268.1:n.*193C>G
NM_012193.3:c.1278G>C (FZD4) NP_036325.2:p.Lys426Asn
NR_120591.1:n.1143C>G (PRSS23)
NR_120592.1:n.892C>G (PRSS23)
NR_120591.2:n.841C>G (PRSS23)
NR_120592.2:n.590C>G (PRSS23)
NM_012193.4:c.1278G>C (FZD4) MANE Select NP_036325.2:p.Lys426Asn
NR_120591.3:n.841C>G (PRSS23)