Canonical Allele Identifier: CA11462767
Gene: KNG1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.186718609A>G
GRCh37 chr3:g.186436398A>G
gnomAD v2:
3:186436398 A / G
gnomAD v3:
3:186718609 A / G
gnomAD v4:
chr3-186718609-A-G
Joint Max Group AF 0.41703415 (SAS)
Genomes Max Group AF 0.41703415 (SAS)
Exomes Max Group AF 0.28338204 (NFE)
dbSNP:
1851665
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186718609A>G , CM000665.2:g.186718609A>G GRCh38
NC_000003.11:g.186436398A>G , CM000665.1:g.186436398A>G GRCh37
NC_000003.10:g.187919092A>G NCBI36
NG_016009.1:g.6301A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000287611.8:c.195+872A>G ENSP00000287611.2:n.195+872A>G
ENST00000644859.2:c.195+872A>G MANE Select ENSP00000493985.1:n.195+872A>G
ENST00000645544.1:n.338+872A>G
ENST00000265023.8:c.195+872A>G ENSP00000265023.4:n.195+872A>G
ENST00000287611.6:c.195+872A>G ENSP00000287611.2:n.195+872A>G
ENST00000447445.1:c.195+872A>G ENSP00000396025.1:n.195+872A>G
NM_000893.3:c.195+872A>G NP_000884.1:n.195+872A>G
NM_001102416.2:c.195+872A>G NP_001095886.1:n.195+872A>G
NM_001166451.1:c.195+872A>G NP_001159923.1:n.195+872A>G
NM_000893.4:c.195+872A>G NP_000884.1:n.195+872A>G
NM_001102416.3:c.195+872A>G MANE Select NP_001095886.1:n.195+872A>G
NM_001166451.2:c.195+872A>G NP_001159923.1:n.195+872A>G
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