Canonical Allele Identifier: CA115828
Gene: KIRREL3 HGNC NCBI
ST3GAL4 HGNC NCBI
KIRREL3-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2886
ClinVar RCV Id: RCV000003020
dbSNP Id: rs119462978

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126562850G>A , CM000673.2:g.126562850G>A GRCh38
NC_000011.9:g.126432745G>A , CM000673.1:g.126432745G>A GRCh37
NC_000011.8:g.125937955G>A NCBI36
NG_012971.1:g.443022C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000525144.7:c.118C>T (KIRREL3) MANE Select ENSP00000435466.2:p.Arg40Trp
ENST00000416561.6:c.-6C>T (KIRREL3) ENSP00000408692.3:n.-6C>T
ENST00000525144.6:c.118C>T (KIRREL3) ENSP00000435466.2:p.Arg40Trp
ENST00000525704.2:c.118C>T (KIRREL3) ENSP00000435094.2:p.Arg40Trp
ENST00000529097.6:c.118C>T (KIRREL3) ENSP00000434081.2:p.Arg40Trp
ENST00000533026.6:n.684C>T (KIRREL3)
ENST00000547738.5:n.774C>T (KIRREL3)
ENST00000549874.1:n.379C>T (KIRREL3)
NM_001161707.1:c.118C>T (KIRREL3) NP_001155179.1:p.Arg40Trp
NM_001301097.1:c.118C>T (KIRREL3) NP_001288026.1:p.Arg40Trp
NM_032531.3:c.118C>T (KIRREL3) NP_115920.1:p.Arg40Trp
XM_011542962.1:c.970-89931G>A (ST3GAL4) XP_011541264.1:n.970-89931G>A
XM_011543026.1:c.136C>T (KIRREL3) XP_011541328.1:p.Arg46Trp
XM_011543027.1:c.118C>T (KIRREL3) XP_011541329.1:p.Arg40Trp
XM_011543028.1:c.118C>T (KIRREL3) XP_011541330.1:p.Arg40Trp
XM_011543029.1:c.118C>T (KIRREL3) XP_011541331.1:p.Arg40Trp
XM_011543030.1:c.136C>T (KIRREL3) XP_011541332.1:p.Arg46Trp
XM_011543031.1:c.118C>T (KIRREL3) XP_011541333.1:p.Arg40Trp
XM_011543032.1:c.136C>T (KIRREL3) XP_011541334.1:p.Arg46Trp
XM_011543033.1:c.118C>T (KIRREL3) XP_011541335.1:p.Arg40Trp
XM_011543026.2:c.136C>T (KIRREL3) XP_011541328.1:p.Arg46Trp
XM_011543027.2:c.118C>T (KIRREL3) XP_011541329.1:p.Arg40Trp
XM_011543028.2:c.118C>T (KIRREL3) XP_011541330.1:p.Arg40Trp
XM_011543030.3:c.136C>T (KIRREL3) XP_011541332.1:p.Arg46Trp
XM_011543031.2:c.118C>T (KIRREL3) XP_011541333.1:p.Arg40Trp
XM_011543032.3:c.136C>T (KIRREL3) XP_011541334.1:p.Arg46Trp
XM_017018419.1:c.118C>T (KIRREL3) XP_016873908.1:p.Arg40Trp
XM_017018420.1:c.118C>T (KIRREL3) XP_016873909.1:p.Arg40Trp
NM_032531.4:c.118C>T (KIRREL3) MANE Select NP_115920.1:p.Arg40Trp
NR_174952.1:n.418+18606G>A (KIRREL3-AS1)