Canonical Allele Identifier: CA338644988

Gene: CLCNKB

Linked Data

• gnomAD v4: 1-16055518-C-G
• MyVariant Identifiers: chr1:g.16382013C>G (hg19) ; chr1:g.16055518C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16055518C>G , CM000663.2:g.16055518C>G	GRCh38
NC_000001.10:g.16382013C>G , CM000663.1:g.16382013C>G	GRCh37
NC_000001.9:g.16254600C>G	NCBI36
NG_013079.1:g.16767C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1840C>G	ENSP00000507062.1:p.His614Asp
ENST00000682793.1:c.1840C>G	ENSP00000506910.1:p.His614Asp
ENST00000682838.1:c.*1582C>G	ENSP00000507652.1:n.*1582C>G
ENST00000683578.1:c.1840C>G	ENSP00000507430.1:p.His614Asp
ENST00000683606.1:n.1446C>G
ENST00000683661.1:n.3375C>G
ENST00000684324.1:c.1840C>G	ENSP00000507937.1:p.His614Asp
ENST00000684545.1:c.1840C>G	ENSP00000506733.1:p.His614Asp
ENST00000684624.1:n.1217C>G
ENST00000684714.1:c.*60C>G	ENSP00000506861.1:n.*60C>G
ENST00000684731.1:n.1167C>G
ENST00000375679.9:c.1840C>G MANE Select	ENSP00000364831.5:p.His614Asp
ENST00000375667.7:c.1333C>G	ENSP00000364819.3:p.His445Asp
ENST00000375679.8:c.1840C>G	ENSP00000364831.4:p.His614Asp
ENST00000431772.1:c.307C>G	ENSP00000389344.1:p.His103Asp
ENST00000619181.4:c.1294-1669C>G	ENSP00000483866.1:n.1294-1669C>G
NM_000085.4:c.1840C>G	NP_000076.2:p.His614Asp
NM_001165945.2:c.1333C>G	NP_001159417.2:p.His445Asp
XM_011540619.1:c.1681C>G	XP_011538921.1:p.His561Asp
XM_011540621.1:c.1189C>G	XP_011538923.1:p.His397Asp
NM_000085.5:c.1840C>G MANE Select	NP_000076.2:p.His614Asp