Canonical Allele Identifier: CA890091197

Gene: CLCNKA

Linked Data

• dbSNP Id: rs1481344595
• gnomAD v3: 1-16025039-G-T
• gnomAD v4: 1-16025039-G-T
• MyVariant Identifiers: chr1:g.16351534G>T (hg19) ; chr1:g.16025039G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16025039G>T , CM000663.2:g.16025039G>T	GRCh38
NC_000001.10:g.16351534G>T , CM000663.1:g.16351534G>T	GRCh37
NC_000001.9:g.16224121G>T	NCBI36
NG_009359.1:g.8049G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331433.5:c.358+148G>T MANE Select	ENSP00000332771.4:n.358+148G>T
ENST00000331433.4:c.358+148G>T	ENSP00000332771.4:n.358+148G>T
ENST00000375692.5:c.358+148G>T	ENSP00000364844.1:n.358+148G>T
ENST00000439316.6:c.230-1069G>T	ENSP00000414445.2:n.230-1069G>T
ENST00000464764.5:n.921+148G>T
ENST00000495784.1:n.516+148G>T
NM_001042704.1:c.358+148G>T	NP_001036169.1:n.358+148G>T
NM_001257139.1:c.230-1069G>T	NP_001244068.1:n.230-1069G>T
NM_004070.3:c.358+148G>T	NP_004061.3:n.358+148G>T
NM_004070.4:c.358+148G>T MANE Select	NP_004061.3:n.358+148G>T
NM_001042704.2:c.358+148G>T	NP_001036169.1:n.358+148G>T
NM_001257139.2:c.230-1069G>T	NP_001244068.1:n.230-1069G>T