Canonical Allele Identifier: CA118909
Gene: CLCNKA HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.16024773G>C
GRCh37 chr1:g.16351268G>C
Revel Score:
ENST00000375692 0.889
ENST00000420078 0.889
ENST00000331433 (MANE Select) 0.889
ClinVar RCV:
RCV000008027
ClinVar Variation:
7589
dbSNP:
121909137
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16024773G>C , CM000663.2:g.16024773G>C GRCh38
NC_000001.10:g.16351268G>C , CM000663.1:g.16351268G>C GRCh37
NC_000001.9:g.16223855G>C NCBI36
NG_009359.1:g.7783G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331433.5:c.240G>C MANE Select ENSP00000332771.4:p.Trp80Cys
ENST00000331433.4:c.240G>C ENSP00000332771.4:p.Trp80Cys
ENST00000375692.5:c.240G>C ENSP00000364844.1:p.Trp80Cys
ENST00000439316.6:c.229+845G>C ENSP00000414445.2:n.229+845G>C
ENST00000464764.5:n.889-86G>C
ENST00000495784.1:n.398G>C
NM_001042704.1:c.240G>C NP_001036169.1:p.Trp80Cys
NM_001257139.1:c.229+845G>C NP_001244068.1:n.229+845G>C
NM_004070.3:c.240G>C NP_004061.3:p.Trp80Cys
NM_004070.4:c.240G>C MANE Select NP_004061.3:p.Trp80Cys
NM_001042704.2:c.240G>C NP_001036169.1:p.Trp80Cys
NM_001257139.2:c.229+845G>C NP_001244068.1:n.229+845G>C
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