Canonical Allele Identifier: CA338609686

Gene: CLCNKA

Linked Data

• dbSNP Id: rs1450863458
• gnomAD v2: 1-16351318-C-T
• gnomAD v4: 1-16024823-C-T
• MyVariant Identifiers: chr1:g.16351318C>T (hg19) ; chr1:g.16024823C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16024823C>T , CM000663.2:g.16024823C>T	GRCh38
NC_000001.10:g.16351318C>T , CM000663.1:g.16351318C>T	GRCh37
NC_000001.9:g.16223905C>T	NCBI36
NG_009359.1:g.7833C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331433.5:c.290C>T MANE Select	ENSP00000332771.4:p.Thr97Ile
ENST00000331433.4:c.290C>T	ENSP00000332771.4:p.Thr97Ile
ENST00000375692.5:c.290C>T	ENSP00000364844.1:p.Thr97Ile
ENST00000439316.6:c.229+895C>T	ENSP00000414445.2:n.229+895C>T
ENST00000464764.5:n.889-36C>T
ENST00000495784.1:n.448C>T
NM_001042704.1:c.290C>T	NP_001036169.1:p.Thr97Ile
NM_001257139.1:c.229+895C>T	NP_001244068.1:n.229+895C>T
NM_004070.3:c.290C>T	NP_004061.3:p.Thr97Ile
NM_004070.4:c.290C>T MANE Select	NP_004061.3:p.Thr97Ile
NM_001042704.2:c.290C>T	NP_001036169.1:p.Thr97Ile
NM_001257139.2:c.229+895C>T	NP_001244068.1:n.229+895C>T