Canonical Allele Identifier: CA15748995
Gene: KLRK1 HGNC NCBI
KLRC4-KLRK1 HGNC NCBI
KLRK1-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.10372766G>C
GRCh37 chr12:g.10525365G>C
gnomAD v2:
12:10525365 G / C
gnomAD v3:
12:10372766 G / C
gnomAD v4:
chr12-10372766-G-C
Joint Max Group AF 0.69826427 (NFE)
Genomes Max Group AF 0.70052118 (NFE)
Exomes Max Group AF 0.69308776 (NFE)
ClinVar RCV:
RCV001638560
ClinVar Variation:
1238157
dbSNP:
1049174
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.10372766G>C , CM000674.2:g.10372766G>C GRCh38
NC_000012.11:g.10525365G>C , CM000674.1:g.10525365G>C GRCh37
NC_000012.10:g.10416632G>C NCBI36
NG_027762.1:g.22276C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000240618.11:c.*348C>G (KLRK1) MANE Select ENSP00000240618.6:n.*348C>G
ENST00000240618.10:c.*348C>G (KLRK1) ENSP00000240618.6:n.*348C>G
ENST00000540267.5:n.1437C>G (KLRK1)
ENST00000543572.6:c.1337C>G (KLRC4-KLRK1) ENSP00000456286.1:n.1337C>G
NM_001199805.1:c.*348C>G (KLRC4-KLRK1) NP_001186734.1:n.*348C>G
NM_007360.3:c.*348C>G (KLRK1) NP_031386.2:n.*348C>G
NR_120430.1:n.266-1269G>C (KLRK1-AS1)
NM_007360.4:c.*348C>G (KLRK1) MANE Select NP_031386.2:n.*348C>G
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