Canonical Allele Identifier: CA2643559936
Gene: CLCNKA HGNC NCBI

Linked Data

gnomAD v4: 1-16024628-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16024628G>T , CM000663.2:g.16024628G>T GRCh38
NC_000001.10:g.16351123G>T , CM000663.1:g.16351123G>T GRCh37
NC_000001.9:g.16223710G>T NCBI36
NG_009359.1:g.7638G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331433.5:c.230-135G>T MANE Select ENSP00000332771.4:n.230-135G>T
ENST00000331433.4:c.230-135G>T ENSP00000332771.4:n.230-135G>T
ENST00000375692.5:c.230-135G>T ENSP00000364844.1:n.230-135G>T
ENST00000439316.6:c.229+700G>T ENSP00000414445.2:n.229+700G>T
ENST00000464764.5:n.889-231G>T
ENST00000495784.1:n.388-135G>T
NM_001042704.1:c.230-135G>T NP_001036169.1:n.230-135G>T
NM_001257139.1:c.229+700G>T NP_001244068.1:n.229+700G>T
NM_004070.3:c.230-135G>T NP_004061.3:n.230-135G>T
NM_004070.4:c.230-135G>T MANE Select NP_004061.3:n.230-135G>T
NM_001042704.2:c.230-135G>T NP_001036169.1:n.230-135G>T
NM_001257139.2:c.229+700G>T NP_001244068.1:n.229+700G>T