Canonical Allele Identifier: CA622158

Gene: CLCNKA

Linked Data

• dbSNP Id: rs777486534
• ExAC: 1:16351264 A / G
• gnomAD v2: 1-16351264-A-G
• gnomAD v3: 1-16024769-A-G
• gnomAD v4: 1-16024769-A-G
• MyVariant Identifiers: chr1:g.16351264A>G (hg19) ; chr1:g.16024769A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16024769A>G , CM000663.2:g.16024769A>G	GRCh38
NC_000001.10:g.16351264A>G , CM000663.1:g.16351264A>G	GRCh37
NC_000001.9:g.16223851A>G	NCBI36
NG_009359.1:g.7779A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331433.5:c.236A>G MANE Select	ENSP00000332771.4:p.Gln79Arg
ENST00000331433.4:c.236A>G	ENSP00000332771.4:p.Gln79Arg
ENST00000375692.5:c.236A>G	ENSP00000364844.1:p.Gln79Arg
ENST00000439316.6:c.229+841A>G	ENSP00000414445.2:n.229+841A>G
ENST00000464764.5:n.889-90A>G
ENST00000495784.1:n.394A>G
NM_001042704.1:c.236A>G	NP_001036169.1:p.Gln79Arg
NM_001257139.1:c.229+841A>G	NP_001244068.1:n.229+841A>G
NM_004070.3:c.236A>G	NP_004061.3:p.Gln79Arg
NM_004070.4:c.236A>G MANE Select	NP_004061.3:p.Gln79Arg
NM_001042704.2:c.236A>G	NP_001036169.1:p.Gln79Arg
NM_001257139.2:c.229+841A>G	NP_001244068.1:n.229+841A>G