Canonical Allele Identifier: CA18309532
Gene: CLCNKA HGNC NCBI

Linked Data

dbSNP Id: rs868849719

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16024832C>T , CM000663.2:g.16024832C>T GRCh38
NC_000001.10:g.16351327C>T , CM000663.1:g.16351327C>T GRCh37
NC_000001.9:g.16223914C>T NCBI36
NG_009359.1:g.7842C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000331433.5:c.299C>T MANE Select ENSP00000332771.4:p.Pro100Leu
ENST00000331433.4:c.299C>T ENSP00000332771.4:p.Pro100Leu
ENST00000375692.5:c.299C>T ENSP00000364844.1:p.Pro100Leu
ENST00000439316.6:c.229+904C>T ENSP00000414445.2:n.229+904C>T
ENST00000464764.5:n.889-27C>T
ENST00000495784.1:n.457C>T
NM_001042704.1:c.299C>T NP_001036169.1:p.Pro100Leu
NM_001257139.1:c.229+904C>T NP_001244068.1:n.229+904C>T
NM_004070.3:c.299C>T NP_004061.3:p.Pro100Leu
NM_004070.4:c.299C>T MANE Select NP_004061.3:p.Pro100Leu
NM_001042704.2:c.299C>T NP_001036169.1:p.Pro100Leu
NM_001257139.2:c.229+904C>T NP_001244068.1:n.229+904C>T