Canonical Allele Identifier: CA382013122

Linked Data

ClinVar Variation Id: 956873
ClinVar RCV Id: RCV001229755
dbSNP Id: rs1949293699

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951648C>T , CM000673.2:g.86951648C>T GRCh38
NC_000011.9:g.86662690C>T , CM000673.1:g.86662690C>T GRCh37
NC_000011.8:g.86340338C>T NCBI36
NG_011752.1:g.8744G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.1108G>A (FZD4) MANE Select ENSP00000434034.1:p.Ala370Thr
ENST00000531380.1:c.1108G>A (FZD4) ENSP00000434034.1:p.Ala370Thr
ENST00000531521.1:n.819C>T (PRSS23)
ENST00000532234.5:c.*641C>T (PRSS23) ENSP00000436676.1:n.*641C>T
ENST00000533902.2:c.*363C>T (PRSS23) ENSP00000437268.1:n.*363C>T
NM_012193.3:c.1108G>A (FZD4) NP_036325.2:p.Ala370Thr
NR_120591.1:n.1313C>T (PRSS23)
NR_120592.1:n.1062C>T (PRSS23)
NR_120591.2:n.1011C>T (PRSS23)
NR_120592.2:n.760C>T (PRSS23)
NM_012193.4:c.1108G>A (FZD4) MANE Select NP_036325.2:p.Ala370Thr
NR_120591.3:n.1011C>T (PRSS23)