Canonical Allele Identifier: CA10951366

Gene: CLCNKA

Linked Data

• ClinVar Variation Id: 1283622
• ClinVar RCV Id: RCV001689549
• dbSNP Id: rs41269165
• gnomAD v2: 1-16351486-C-G
• gnomAD v3: 1-16024991-C-G
• gnomAD v4: 1-16024991-C-G
• MyVariant Identifiers: chr1:g.16351486C>G (hg19) ; chr1:g.16024991C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16024991C>G , CM000663.2:g.16024991C>G	GRCh38
NC_000001.10:g.16351486C>G , CM000663.1:g.16351486C>G	GRCh37
NC_000001.9:g.16224073C>G	NCBI36
NG_009359.1:g.8001C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331433.5:c.358+100C>G MANE Select	ENSP00000332771.4:n.358+100C>G
ENST00000331433.4:c.358+100C>G	ENSP00000332771.4:n.358+100C>G
ENST00000375692.5:c.358+100C>G	ENSP00000364844.1:n.358+100C>G
ENST00000439316.6:c.229+1063C>G	ENSP00000414445.2:n.229+1063C>G
ENST00000464764.5:n.921+100C>G
ENST00000495784.1:n.516+100C>G
NM_001042704.1:c.358+100C>G	NP_001036169.1:n.358+100C>G
NM_001257139.1:c.229+1063C>G	NP_001244068.1:n.229+1063C>G
NM_004070.3:c.358+100C>G	NP_004061.3:n.358+100C>G
NM_004070.4:c.358+100C>G MANE Select	NP_004061.3:n.358+100C>G
NM_001042704.2:c.358+100C>G	NP_001036169.1:n.358+100C>G
NM_001257139.2:c.229+1063C>G	NP_001244068.1:n.229+1063C>G