Canonical Allele Identifier: CA915608
Gene: PIGK HGNC NCBI
ClinVar RCV:
RCV001788903
ClinVar Variation:
1327022
COSMIC:
COSN163136
COSN8862460
dbSNP:
1048575
gnomAD v2:
1:77558057 G / C
gnomAD v3:
1:77092372 G / C
gnomAD v4:
chr1-77092372-G-C
Joint Max Group AF 0.41188404 (AFR)
Genomes Max Group AF 0.4079575 (AFR)
Exomes Max Group AF 0.41375499 (AFR)
MyVariant.info:
GRCh38 chr1:g.77092372G>C
GRCh37 chr1:g.77558057G>C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.77092372G>C , CM000663.2:g.77092372G>C GRCh38
NC_000001.10:g.77558057G>C , CM000663.1:g.77558057G>C GRCh37
NC_000001.9:g.77330645G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000370812.8:c.*2C>G MANE Select ENSP00000359848.3:n.*2C>G
ENST00000370812.7:c.*2C>G ENSP00000359848.3:n.*2C>G
ENST00000445065.5:c.*2C>G ENSP00000388854.1:n.*2C>G
ENST00000487906.5:c.763C>G ENSP00000474518.1:n.763C>G
NM_005482.2:c.*2C>G NP_005473.1:n.*2C>G
NM_005482.3:c.*2C>G MANE Select NP_005473.1:n.*2C>G
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