Canonical Allele Identifier: CA622178
Gene: CLCNKA HGNC NCBI

Linked Data

dbSNP Id: rs372000305
gnomAD v2: 1-16351357-T-C
gnomAD v4: 1-16024862-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16024862T>C , CM000663.2:g.16024862T>C GRCh38
NC_000001.10:g.16351357T>C , CM000663.1:g.16351357T>C GRCh37
NC_000001.9:g.16223944T>C NCBI36
NG_009359.1:g.7872T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331433.5:c.329T>C MANE Select ENSP00000332771.4:p.Phe110Ser
ENST00000331433.4:c.329T>C ENSP00000332771.4:p.Phe110Ser
ENST00000375692.5:c.329T>C ENSP00000364844.1:p.Phe110Ser
ENST00000439316.6:c.229+934T>C ENSP00000414445.2:n.229+934T>C
ENST00000464764.5:n.892T>C
ENST00000495784.1:n.487T>C
NM_001042704.1:c.329T>C NP_001036169.1:p.Phe110Ser
NM_001257139.1:c.229+934T>C NP_001244068.1:n.229+934T>C
NM_004070.3:c.329T>C NP_004061.3:p.Phe110Ser
NM_004070.4:c.329T>C MANE Select NP_004061.3:p.Phe110Ser
NM_001042704.2:c.329T>C NP_001036169.1:p.Phe110Ser
NM_001257139.2:c.229+934T>C NP_001244068.1:n.229+934T>C