Canonical Allele Identifier: CA364080920

Gene: PRICKLE4 FRS3

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.41786175T>G , CM000668.2:g.41786175T>G	GRCh38
NC_000006.11:g.41753913T>G , CM000668.1:g.41753913T>G	GRCh37
NC_000006.10:g.41861891T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_013397.6:c.630T>G (PRICKLE4) MANE Select	NP_037529.3:p.His210Gln
ENST00000458694.6:c.630T>G (PRICKLE4) MANE Select	ENSP00000404911.1:p.His210Gln
NM_013397.5:c.630T>G (PRICKLE4)	NP_037529.3:p.His210Gln
ENST00000335515.10:c.630T>G	ENSP00000335185.6:p.His210Gln
ENST00000359201.6:c.510T>G	ENSP00000352128.6:p.His170Gln
ENST00000394259.5:c.510T>G (PRICKLE4)	ENSP00000377802.1:p.His170Gln
ENST00000394260.2:c.510T>G (PRICKLE4)	ENSP00000377803.1:p.His170Gln
ENST00000394263.5:c.630T>G (PRICKLE4)	ENSP00000377806.1:p.His210Gln
ENST00000422888.5:c.-168+318A>C (FRS3)	ENSP00000413214.1:n.-168+318A>C
ENST00000456057.5:c.*814T>G	ENSP00000389023.1:n.*814T>G
ENST00000458694.5:c.630T>G	ENSP00000404911.1:p.His210Gln
ENST00000483200.2:c.319T>G (PRICKLE4)
ENST00000487182.5:n.1393T>G