Canonical Allele Identifier: CA10661637
Gene: CLCNKA HGNC NCBI
COSMIC:
COSN6508128 (not active)
MyVariant.info:
GRCh38 chr1:g.16026442G>A
GRCh37 chr1:g.16352937G>A
gnomAD v2:
1:16352937 G / A
gnomAD v3:
1:16026442 G / A
gnomAD v4:
chr1-16026442-G-A
Joint Max Group AF 0.72912199 (EAS)
Genomes Max Group AF 0.75589115 (EAS)
Exomes Max Group AF 0.72339912 (EAS)
ClinVar Allele:
1267202
ClinVar RCV:
RCV001688230
ClinVar Variation:
1278622
dbSNP:
1010069
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16026442G>A , CM000663.2:g.16026442G>A GRCh38
NC_000001.10:g.16352937G>A , CM000663.1:g.16352937G>A GRCh37
NC_000001.9:g.16225524G>A NCBI36
NG_009359.1:g.9452G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000331433.5:c.499-94G>A MANE Select ENSP00000332771.4:n.499-94G>A
ENST00000331433.4:c.499-94G>A ENSP00000332771.4:n.499-94G>A
ENST00000375692.5:c.499-94G>A ENSP00000364844.1:n.499-94G>A
ENST00000439316.6:c.370-94G>A ENSP00000414445.2:n.370-94G>A
ENST00000464764.5:n.1062-94G>A
ENST00000495784.1:n.667-94G>A
NM_001042704.1:c.499-94G>A NP_001036169.1:n.499-94G>A
NM_001257139.1:c.370-94G>A NP_001244068.1:n.370-94G>A
NM_004070.3:c.499-94G>A NP_004061.3:n.499-94G>A
NM_004070.4:c.499-94G>A MANE Select NP_004061.3:n.499-94G>A
NM_001042704.2:c.499-94G>A NP_001036169.1:n.499-94G>A
NM_001257139.2:c.370-94G>A NP_001244068.1:n.370-94G>A
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