Canonical Allele Identifier: CA476144509

Linked Data

ClinVar Variation Id: 2811027
ClinVar RCV Id: RCV003682705
MyVariant Identifiers: chr11:g.86662681G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86951639G>A , CM000673.2:g.86951639G>A GRCh38
NC_000011.9:g.86662681G>A , CM000673.1:g.86662681G>A GRCh37
NC_000011.8:g.86340329G>A NCBI36
NG_011752.1:g.8753C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000531380.2:c.1117C>T (FZD4) MANE Select ENSP00000434034.1:p.Leu373=
ENST00000531380.1:c.1117C>T (FZD4) ENSP00000434034.1:p.Leu373=
ENST00000531521.1:n.810G>A (PRSS23)
ENST00000532234.5:c.*632G>A (PRSS23) ENSP00000436676.1:n.*632G>A
ENST00000533902.2:c.*354G>A (PRSS23) ENSP00000437268.1:n.*354G>A
NM_012193.3:c.1117C>T (FZD4) NP_036325.2:p.Leu373=
NR_120591.1:n.1304G>A (PRSS23)
NR_120592.1:n.1053G>A (PRSS23)
NR_120591.2:n.1002G>A (PRSS23)
NR_120592.2:n.751G>A (PRSS23)
NM_012193.4:c.1117C>T (FZD4) MANE Select NP_036325.2:p.Leu373=
NR_120591.3:n.1002G>A (PRSS23)