Canonical Allele Identifier: CA416227213

Gene: CLCNKA

Linked Data

• dbSNP Id: rs1437445174
• gnomAD v2: 1-16351358-C-T
• gnomAD v4: 1-16024863-C-T
• MyVariant Identifiers: chr1:g.16351358C>T (hg19) ; chr1:g.16024863C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16024863C>T , CM000663.2:g.16024863C>T	GRCh38
NC_000001.10:g.16351358C>T , CM000663.1:g.16351358C>T	GRCh37
NC_000001.9:g.16223945C>T	NCBI36
NG_009359.1:g.7873C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331433.5:c.330C>T MANE Select	ENSP00000332771.4:p.Phe110=
ENST00000331433.4:c.330C>T	ENSP00000332771.4:p.Phe110=
ENST00000375692.5:c.330C>T	ENSP00000364844.1:p.Phe110=
ENST00000439316.6:c.229+935C>T	ENSP00000414445.2:n.229+935C>T
ENST00000464764.5:n.893C>T
ENST00000495784.1:n.488C>T
NM_001042704.1:c.330C>T	NP_001036169.1:p.Phe110=
NM_001257139.1:c.229+935C>T	NP_001244068.1:n.229+935C>T
NM_004070.3:c.330C>T	NP_004061.3:p.Phe110=
NM_004070.4:c.330C>T MANE Select	NP_004061.3:p.Phe110=
NM_001042704.2:c.330C>T	NP_001036169.1:p.Phe110=
NM_001257139.2:c.229+935C>T	NP_001244068.1:n.229+935C>T