Canonical Allele Identifier: CA338609962

Gene: CLCNKA

Linked Data

• dbSNP Id: rs2022287331
• gnomAD v4: 1-16024888-G-A
• MyVariant Identifiers: chr1:g.16351383G>A (hg19) ; chr1:g.16024888G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16024888G>A , CM000663.2:g.16024888G>A	GRCh38
NC_000001.10:g.16351383G>A , CM000663.1:g.16351383G>A	GRCh37
NC_000001.9:g.16223970G>A	NCBI36
NG_009359.1:g.7898G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331433.5:c.355G>A MANE Select	ENSP00000332771.4:p.Gly119Arg
ENST00000331433.4:c.355G>A	ENSP00000332771.4:p.Gly119Arg
ENST00000375692.5:c.355G>A	ENSP00000364844.1:p.Gly119Arg
ENST00000439316.6:c.229+960G>A	ENSP00000414445.2:n.229+960G>A
ENST00000464764.5:n.918G>A
ENST00000495784.1:n.513G>A
NM_001042704.1:c.355G>A	NP_001036169.1:p.Gly119Arg
NM_001257139.1:c.229+960G>A	NP_001244068.1:n.229+960G>A
NM_004070.3:c.355G>A	NP_004061.3:p.Gly119Arg
NM_004070.4:c.355G>A MANE Select	NP_004061.3:p.Gly119Arg
NM_001042704.2:c.355G>A	NP_001036169.1:p.Gly119Arg
NM_001257139.2:c.229+960G>A	NP_001244068.1:n.229+960G>A