Canonical Allele Identifier: CA216199

Gene: CLCNKA

Linked Data

• ClinVar Variation Id: 64463
• ClinVar RCV Id: RCV000054650
• dbSNP Id: rs387907406
• MyVariant Identifiers: chr1:g.16353902G>C (hg19) ; chr1:g.16027407G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16027407G>C , CM000663.2:g.16027407G>C	GRCh38
NC_000001.10:g.16353902G>C , CM000663.1:g.16353902G>C	GRCh37
NC_000001.9:g.16226489G>C	NCBI36
NG_009359.1:g.10417G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331433.5:c.753G>C MANE Select	ENSP00000332771.4:p.Arg251=
ENST00000331433.4:c.753G>C	ENSP00000332771.4:p.Arg251=
ENST00000375692.5:c.753G>C	ENSP00000364844.1:p.Arg251=
ENST00000439316.6:c.624G>C	ENSP00000414445.2:p.Arg208=
ENST00000464764.5:n.1316G>C
ENST00000491433.1:n.169G>C
NM_001042704.1:c.753G>C	NP_001036169.1:p.Arg251=
NM_001257139.1:c.624G>C	NP_001244068.1:p.Arg208=
NM_004070.3:c.753G>C	NP_004061.3:p.Arg251=
NM_004070.4:c.753G>C MANE Select	NP_004061.3:p.Arg251=
NM_001042704.2:c.753G>C	NP_001036169.1:p.Arg251=
NM_001257139.2:c.624G>C	NP_001244068.1:p.Arg208=