Canonical Allele Identifier: CA4376024

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.100122552G>A , CM000669.2:g.100122552G>A GRCh38
NC_000007.13:g.99720175G>A , CM000669.1:g.99720175G>A GRCh37
NC_000007.12:g.99558111G>A NCBI36
NG_029454.1:g.2307C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262932.5:c.317G>A (CNPY4) MANE Select ENSP00000262932.3:p.Arg106His
ENST00000262932.4:c.317G>A (CNPY4) ENSP00000262932.3:p.Arg106His
ENST00000462193.2:c.199G>A (CNPY4)
ENST00000480692.4:n.406G>A (CNPY4)
ENST00000483756.5:c.-41G>A (CNPY4) ENSP00000488362.1:n.-41G>A
NM_152755.1:c.317G>A (CNPY4) NP_689968.1:p.Arg106His
XM_024446896.1:c.-60+4590C>T (TAF6) XP_024302664.1:n.-60+4590C>T
NM_152755.2:c.317G>A (CNPY4) MANE Select NP_689968.1:p.Arg106His