Canonical Allele Identifier: CA521294195

Gene: CLCNKA

Linked Data

• dbSNP Id: rs1252598787
• gnomAD v2: 1-16351057-C-T
• gnomAD v3: 1-16024562-C-T
• gnomAD v4: 1-16024562-C-T
• MyVariant Identifiers: chr1:g.16351057C>T (hg19) ; chr1:g.16024562C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16024562C>T , CM000663.2:g.16024562C>T	GRCh38
NC_000001.10:g.16351057C>T , CM000663.1:g.16351057C>T	GRCh37
NC_000001.9:g.16223644C>T	NCBI36
NG_009359.1:g.7572C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331433.5:c.230-201C>T MANE Select	ENSP00000332771.4:n.230-201C>T
ENST00000331433.4:c.230-201C>T	ENSP00000332771.4:n.230-201C>T
ENST00000375692.5:c.230-201C>T	ENSP00000364844.1:n.230-201C>T
ENST00000439316.6:c.229+634C>T	ENSP00000414445.2:n.229+634C>T
ENST00000464764.5:n.889-297C>T
ENST00000495784.1:n.388-201C>T
NM_001042704.1:c.230-201C>T	NP_001036169.1:n.230-201C>T
NM_001257139.1:c.229+634C>T	NP_001244068.1:n.229+634C>T
NM_004070.3:c.230-201C>T	NP_004061.3:n.230-201C>T
NM_004070.4:c.230-201C>T MANE Select	NP_004061.3:n.230-201C>T
NM_001042704.2:c.230-201C>T	NP_001036169.1:n.230-201C>T
NM_001257139.2:c.229+634C>T	NP_001244068.1:n.229+634C>T