Canonical Allele Identifier: CA1177495
Gene: KIRREL1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.158088319C>A
GRCh37 chr1:g.158058109C>A
gnomAD v2:
1:158058109 C / A
gnomAD v3:
1:158088319 C / A
gnomAD v4:
chr1-158088319-C-A
Joint Max Group AF 0.66671835 (EAS)
Genomes Max Group AF 0.66315774 (EAS)
Exomes Max Group AF 0.66517223 (EAS)
dbSNP:
6427419
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.158088319C>A , CM000663.2:g.158088319C>A GRCh38
NC_000001.10:g.158058109C>A , CM000663.1:g.158058109C>A GRCh37
NC_000001.9:g.156324733C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000368172.2:c.565-8C>A
ENST00000359209.11:c.917-8C>A MANE Select ENSP00000352138.6:n.917-8C>A
ENST00000359209.10:c.917-8C>A ENSP00000352138.6:n.917-8C>A
ENST00000360089.8:c.425-8C>A ENSP00000353202.4:n.425-8C>A
ENST00000368172.1:c.311-8C>A ENSP00000357154.1:n.311-8C>A
ENST00000368173.7:c.617-8C>A ENSP00000357155.4:n.617-8C>A
NM_001286349.1:c.617-8C>A NP_001273278.1:n.617-8C>A
NM_018240.6:c.917-8C>A NP_060710.3:n.917-8C>A
XM_005245305.3:c.917-8C>A XP_005245362.1:n.917-8C>A
XM_011509716.1:c.734-8C>A XP_011508018.1:n.734-8C>A
XM_005245305.5:c.917-8C>A XP_005245362.1:n.917-8C>A
NM_018240.7:c.917-8C>A MANE Select NP_060710.3:n.917-8C>A
NM_001286349.2:c.617-8C>A NP_001273278.1:n.617-8C>A
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