Canonical Allele Identifier: CA338609514

Gene: CLCNKA

Linked Data

• MyVariant Identifiers: chr1:g.16351269C>G (hg19) ; chr1:g.16024774C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16024774C>G , CM000663.2:g.16024774C>G	GRCh38
NC_000001.10:g.16351269C>G , CM000663.1:g.16351269C>G	GRCh37
NC_000001.9:g.16223856C>G	NCBI36
NG_009359.1:g.7784C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331433.5:c.241C>G MANE Select	ENSP00000332771.4:p.Leu81Val
ENST00000331433.4:c.241C>G	ENSP00000332771.4:p.Leu81Val
ENST00000375692.5:c.241C>G	ENSP00000364844.1:p.Leu81Val
ENST00000439316.6:c.229+846C>G	ENSP00000414445.2:n.229+846C>G
ENST00000464764.5:n.889-85C>G
ENST00000495784.1:n.399C>G
NM_001042704.1:c.241C>G	NP_001036169.1:p.Leu81Val
NM_001257139.1:c.229+846C>G	NP_001244068.1:n.229+846C>G
NM_004070.3:c.241C>G	NP_004061.3:p.Leu81Val
NM_004070.4:c.241C>G MANE Select	NP_004061.3:p.Leu81Val
NM_001042704.2:c.241C>G	NP_001036169.1:p.Leu81Val
NM_001257139.2:c.229+846C>G	NP_001244068.1:n.229+846C>G