Canonical Allele Identifier: CA382012120

Linked Data

ClinVar Variation Id: 1062228
ClinVar RCV Id: RCV001371919
dbSNP Id: rs952974198

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951488T>C , CM000673.2:g.86951488T>C GRCh38
NC_000011.9:g.86662530T>C , CM000673.1:g.86662530T>C GRCh37
NC_000011.8:g.86340178T>C NCBI36
NG_011752.1:g.8904A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.1268A>G (FZD4) MANE Select ENSP00000434034.1:p.Asp423Gly
ENST00000531380.1:c.1268A>G (FZD4) ENSP00000434034.1:p.Asp423Gly
ENST00000531521.1:n.659T>C (PRSS23)
ENST00000532234.5:c.*481T>C (PRSS23) ENSP00000436676.1:n.*481T>C
ENST00000533902.2:c.*203T>C (PRSS23) ENSP00000437268.1:n.*203T>C
NM_012193.3:c.1268A>G (FZD4) NP_036325.2:p.Asp423Gly
NR_120591.1:n.1153T>C (PRSS23)
NR_120592.1:n.902T>C (PRSS23)
NR_120591.2:n.851T>C (PRSS23)
NR_120592.2:n.600T>C (PRSS23)
NM_012193.4:c.1268A>G (FZD4) MANE Select NP_036325.2:p.Asp423Gly
NR_120591.3:n.851T>C (PRSS23)