Canonical Allele Identifier: CA998973552
Gene: CLCNKA HGNC NCBI

Linked Data

gnomAD v3: 1-16024995-C-T
gnomAD v4: 1-16024995-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16024995C>T , CM000663.2:g.16024995C>T GRCh38
NC_000001.10:g.16351490C>T , CM000663.1:g.16351490C>T GRCh37
NC_000001.9:g.16224077C>T NCBI36
NG_009359.1:g.8005C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331433.5:c.358+104C>T MANE Select ENSP00000332771.4:n.358+104C>T
ENST00000331433.4:c.358+104C>T ENSP00000332771.4:n.358+104C>T
ENST00000375692.5:c.358+104C>T ENSP00000364844.1:n.358+104C>T
ENST00000439316.6:c.229+1067C>T ENSP00000414445.2:n.229+1067C>T
ENST00000464764.5:n.921+104C>T
ENST00000495784.1:n.516+104C>T
NM_001042704.1:c.358+104C>T NP_001036169.1:n.358+104C>T
NM_001257139.1:c.229+1067C>T NP_001244068.1:n.229+1067C>T
NM_004070.3:c.358+104C>T NP_004061.3:n.358+104C>T
NM_004070.4:c.358+104C>T MANE Select NP_004061.3:n.358+104C>T
NM_001042704.2:c.358+104C>T NP_001036169.1:n.358+104C>T
NM_001257139.2:c.229+1067C>T NP_001244068.1:n.229+1067C>T