Canonical Allele Identifier: CA338609659
Gene: CLCNKA HGNC NCBI

Linked Data

gnomAD v4: 1-16024816-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16024816T>C , CM000663.2:g.16024816T>C GRCh38
NC_000001.10:g.16351311T>C , CM000663.1:g.16351311T>C GRCh37
NC_000001.9:g.16223898T>C NCBI36
NG_009359.1:g.7826T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000331433.5:c.283T>C MANE Select ENSP00000332771.4:p.Ser95Pro
ENST00000331433.4:c.283T>C ENSP00000332771.4:p.Ser95Pro
ENST00000375692.5:c.283T>C ENSP00000364844.1:p.Ser95Pro
ENST00000439316.6:c.229+888T>C ENSP00000414445.2:n.229+888T>C
ENST00000464764.5:n.889-43T>C
ENST00000495784.1:n.441T>C
NM_001042704.1:c.283T>C NP_001036169.1:p.Ser95Pro
NM_001257139.1:c.229+888T>C NP_001244068.1:n.229+888T>C
NM_004070.3:c.283T>C NP_004061.3:p.Ser95Pro
NM_004070.4:c.283T>C MANE Select NP_004061.3:p.Ser95Pro
NM_001042704.2:c.283T>C NP_001036169.1:p.Ser95Pro
NM_001257139.2:c.229+888T>C NP_001244068.1:n.229+888T>C