Canonical Allele Identifier: CA622169

Gene: CLCNKA

Linked Data

• dbSNP Id: rs118025694
• ExAC: 1:16351310 T / C
• gnomAD v2: 1-16351310-T-C
• gnomAD v3: 1-16024815-T-C
• gnomAD v4: 1-16024815-T-C
• MyVariant Identifiers: chr1:g.16351310T>C (hg19) ; chr1:g.16024815T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16024815T>C , CM000663.2:g.16024815T>C	GRCh38
NC_000001.10:g.16351310T>C , CM000663.1:g.16351310T>C	GRCh37
NC_000001.9:g.16223897T>C	NCBI36
NG_009359.1:g.7825T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331433.5:c.282T>C MANE Select	ENSP00000332771.4:p.Leu94=
ENST00000331433.4:c.282T>C	ENSP00000332771.4:p.Leu94=
ENST00000375692.5:c.282T>C	ENSP00000364844.1:p.Leu94=
ENST00000439316.6:c.229+887T>C	ENSP00000414445.2:n.229+887T>C
ENST00000464764.5:n.889-44T>C
ENST00000495784.1:n.440T>C
NM_001042704.1:c.282T>C	NP_001036169.1:p.Leu94=
NM_001257139.1:c.229+887T>C	NP_001244068.1:n.229+887T>C
NM_004070.3:c.282T>C	NP_004061.3:p.Leu94=
NM_004070.4:c.282T>C MANE Select	NP_004061.3:p.Leu94=
NM_001042704.2:c.282T>C	NP_001036169.1:p.Leu94=
NM_001257139.2:c.229+887T>C	NP_001244068.1:n.229+887T>C