Canonical Allele Identifier: CA118910
Gene: CLCNKA HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.16027432C>T
GRCh37 chr1:g.16353927C>T
gnomAD v2:
1:16353927 C / T
gnomAD v3:
1:16027432 C / T
gnomAD v4:
chr1-16027432-C-T
Joint Max Group AF 0.00086741 (EAS)
Genomes Max Group AF 0.00006842 (EAS)
Exomes Max Group AF 0.00093692 (EAS)
ClinVar RCV:
RCV000008028
ClinVar Variation:
7590
dbSNP:
121909138
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16027432C>T , CM000663.2:g.16027432C>T GRCh38
NC_000001.10:g.16353927C>T , CM000663.1:g.16353927C>T GRCh37
NC_000001.9:g.16226514C>T NCBI36
NG_009359.1:g.10442C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331433.5:c.778C>T MANE Select ENSP00000332771.4:p.Gln260Ter
ENST00000331433.4:c.778C>T ENSP00000332771.4:p.Gln260Ter
ENST00000375692.5:c.778C>T ENSP00000364844.1:p.Gln260Ter
ENST00000439316.6:c.649C>T ENSP00000414445.2:p.Gln217Ter
ENST00000464764.5:n.1341C>T
ENST00000491433.1:n.194C>T
NM_001042704.1:c.778C>T NP_001036169.1:p.Gln260Ter
NM_001257139.1:c.649C>T NP_001244068.1:p.Gln217Ter
NM_004070.3:c.778C>T NP_004061.3:p.Gln260Ter
NM_004070.4:c.778C>T MANE Select NP_004061.3:p.Gln260Ter
NM_001042704.2:c.778C>T NP_001036169.1:p.Gln260Ter
NM_001257139.2:c.649C>T NP_001244068.1:p.Gln217Ter
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