Canonical Allele Identifier: CA338609539

Gene: CLCNKA

Linked Data

• gnomAD v4: 1-16024782-G-T
• MyVariant Identifiers: chr1:g.16351277G>T (hg19) ; chr1:g.16024782G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16024782G>T , CM000663.2:g.16024782G>T	GRCh38
NC_000001.10:g.16351277G>T , CM000663.1:g.16351277G>T	GRCh37
NC_000001.9:g.16223864G>T	NCBI36
NG_009359.1:g.7792G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000331433.5:c.249G>T MANE Select	ENSP00000332771.4:p.Arg83Ser
ENST00000331433.4:c.249G>T	ENSP00000332771.4:p.Arg83Ser
ENST00000375692.5:c.249G>T	ENSP00000364844.1:p.Arg83Ser
ENST00000439316.6:c.229+854G>T	ENSP00000414445.2:n.229+854G>T
ENST00000464764.5:n.889-77G>T
ENST00000495784.1:n.407G>T
NM_001042704.1:c.249G>T	NP_001036169.1:p.Arg83Ser
NM_001257139.1:c.229+854G>T	NP_001244068.1:n.229+854G>T
NM_004070.3:c.249G>T	NP_004061.3:p.Arg83Ser
NM_004070.4:c.249G>T MANE Select	NP_004061.3:p.Arg83Ser
NM_001042704.2:c.249G>T	NP_001036169.1:p.Arg83Ser
NM_001257139.2:c.229+854G>T	NP_001244068.1:n.229+854G>T