Canonical Allele Identifier: CA622178

Gene: CLCNKA

Linked Data

• dbSNP Id: rs372000305
• ExAC: 1:16351357 T / C
• gnomAD v2: 1-16351357-T-C
• gnomAD v4: 1-16024862-T-C
• MyVariant Identifiers: chr1:g.16351357T>C (hg19) ; chr1:g.16024862T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16024862T>C , CM000663.2:g.16024862T>C	GRCh38
NC_000001.10:g.16351357T>C , CM000663.1:g.16351357T>C	GRCh37
NC_000001.9:g.16223944T>C	NCBI36
NG_009359.1:g.7872T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331433.5:c.329T>C MANE Select	ENSP00000332771.4:p.Phe110Ser
ENST00000331433.4:c.329T>C	ENSP00000332771.4:p.Phe110Ser
ENST00000375692.5:c.329T>C	ENSP00000364844.1:p.Phe110Ser
ENST00000439316.6:c.229+934T>C	ENSP00000414445.2:n.229+934T>C
ENST00000464764.5:n.892T>C
ENST00000495784.1:n.487T>C
NM_001042704.1:c.329T>C	NP_001036169.1:p.Phe110Ser
NM_001257139.1:c.229+934T>C	NP_001244068.1:n.229+934T>C
NM_004070.3:c.329T>C	NP_004061.3:p.Phe110Ser
NM_004070.4:c.329T>C MANE Select	NP_004061.3:p.Phe110Ser
NM_001042704.2:c.329T>C	NP_001036169.1:p.Phe110Ser
NM_001257139.2:c.229+934T>C	NP_001244068.1:n.229+934T>C