Canonical Allele Identifier: CA476144381

Linked Data

ClinVar Variation Id: 1103968
ClinVar RCV Id: RCV001427840
dbSNP Id: rs1168277108
MyVariant Identifiers: chr11:g.86662484C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951442C>T , CM000673.2:g.86951442C>T GRCh38
NC_000011.9:g.86662484C>T , CM000673.1:g.86662484C>T GRCh37
NC_000011.8:g.86340132C>T NCBI36
NG_011752.1:g.8950G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000531380.2:c.1314G>A (FZD4) MANE Select ENSP00000434034.1:p.Gly438=
ENST00000531380.1:c.1314G>A (FZD4) ENSP00000434034.1:p.Gly438=
ENST00000531521.1:n.613C>T (PRSS23)
ENST00000532234.5:c.*435C>T (PRSS23) ENSP00000436676.1:n.*435C>T
ENST00000533902.2:c.*157C>T (PRSS23) ENSP00000437268.1:n.*157C>T
NM_012193.3:c.1314G>A (FZD4) NP_036325.2:p.Gly438=
NR_120591.1:n.1107C>T (PRSS23)
NR_120592.1:n.856C>T (PRSS23)
NR_120591.2:n.805C>T (PRSS23)
NR_120592.2:n.554C>T (PRSS23)
NM_012193.4:c.1314G>A (FZD4) MANE Select NP_036325.2:p.Gly438=
NR_120591.3:n.805C>T (PRSS23)