Canonical Allele Identifier: CA18332496

Gene: CLCNKB

Linked Data

• dbSNP Id: rs1055969962
• gnomAD v3: 1-16048379-T-G
• gnomAD v4: 1-16048379-T-G
• MyVariant Identifiers: chr1:g.16374874T>G (hg19) ; chr1:g.16048379T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16048379T>G , CM000663.2:g.16048379T>G	GRCh38
NC_000001.10:g.16374874T>G , CM000663.1:g.16374874T>G	GRCh37
NC_000001.9:g.16247461T>G	NCBI36
NG_013079.1:g.9628T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.535T>G	ENSP00000507062.1:p.Tyr179Asp
ENST00000682793.1:c.535T>G	ENSP00000506910.1:p.Tyr179Asp
ENST00000682838.1:c.*193T>G	ENSP00000507652.1:n.*193T>G
ENST00000683578.1:c.535T>G	ENSP00000507430.1:p.Tyr179Asp
ENST00000683661.1:n.2070T>G
ENST00000684324.1:c.535T>G	ENSP00000507937.1:p.Tyr179Asp
ENST00000684545.1:c.535T>G	ENSP00000506733.1:p.Tyr179Asp
ENST00000684714.1:c.535T>G	ENSP00000506861.1:p.Tyr179Asp
ENST00000375679.9:c.535T>G MANE Select	ENSP00000364831.5:p.Tyr179Asp
ENST00000375679.8:c.535T>G	ENSP00000364831.4:p.Tyr179Asp
ENST00000619181.4:c.535T>G	ENSP00000483866.1:p.Tyr179Asp
NM_000085.4:c.535T>G	NP_000076.2:p.Tyr179Asp
XM_011540619.1:c.376T>G	XP_011538921.1:p.Tyr126Asp
XM_011540620.1:c.535T>G	XP_011538922.1:p.Tyr179Asp
NM_000085.5:c.535T>G MANE Select	NP_000076.2:p.Tyr179Asp