Canonical Allele Identifier: CA338609895

Gene: CLCNKA

Linked Data

• gnomAD v4: 1-16024869-G-C
• MyVariant Identifiers: chr1:g.16351364G>C (hg19) ; chr1:g.16024869G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16024869G>C , CM000663.2:g.16024869G>C	GRCh38
NC_000001.10:g.16351364G>C , CM000663.1:g.16351364G>C	GRCh37
NC_000001.9:g.16223951G>C	NCBI36
NG_009359.1:g.7879G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331433.5:c.336G>C MANE Select	ENSP00000332771.4:p.Gln112His
ENST00000331433.4:c.336G>C	ENSP00000332771.4:p.Gln112His
ENST00000375692.5:c.336G>C	ENSP00000364844.1:p.Gln112His
ENST00000439316.6:c.229+941G>C	ENSP00000414445.2:n.229+941G>C
ENST00000464764.5:n.899G>C
ENST00000495784.1:n.494G>C
NM_001042704.1:c.336G>C	NP_001036169.1:p.Gln112His
NM_001257139.1:c.229+941G>C	NP_001244068.1:n.229+941G>C
NM_004070.3:c.336G>C	NP_004061.3:p.Gln112His
NM_004070.4:c.336G>C MANE Select	NP_004061.3:p.Gln112His
NM_001042704.2:c.336G>C	NP_001036169.1:p.Gln112His
NM_001257139.2:c.229+941G>C	NP_001244068.1:n.229+941G>C