Canonical Allele Identifier: CA338643932

Gene: CLCNKB

Linked Data

• dbSNP Id: rs910445039
• gnomAD v2: 1-16380249-C-T
• gnomAD v4: 1-16053754-C-T
• MyVariant Identifiers: chr1:g.16380249C>T (hg19) ; chr1:g.16053754C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16053754C>T , CM000663.2:g.16053754C>T	GRCh38
NC_000001.10:g.16380249C>T , CM000663.1:g.16380249C>T	GRCh37
NC_000001.9:g.16252836C>T	NCBI36
NG_013079.1:g.15003C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682338.1:c.1738C>T	ENSP00000507062.1:p.Pro580Ser
ENST00000682793.1:c.1738C>T	ENSP00000506910.1:p.Pro580Ser
ENST00000682838.1:c.*1480C>T	ENSP00000507652.1:n.*1480C>T
ENST00000683578.1:c.1738C>T	ENSP00000507430.1:p.Pro580Ser
ENST00000683606.1:n.1344C>T
ENST00000683661.1:n.3273C>T
ENST00000684324.1:c.1738C>T	ENSP00000507937.1:p.Pro580Ser
ENST00000684545.1:c.1738C>T	ENSP00000506733.1:p.Pro580Ser
ENST00000684624.1:n.1115C>T
ENST00000684714.1:c.1707+31C>T	ENSP00000506861.1:n.1707+31C>T
ENST00000684731.1:n.1083+1343C>T
ENST00000375679.9:c.1738C>T MANE Select	ENSP00000364831.5:p.Pro580Ser
ENST00000375667.7:c.1231C>T	ENSP00000364819.3:p.Pro411Ser
ENST00000375679.8:c.1738C>T	ENSP00000364831.4:p.Pro580Ser
ENST00000431772.1:c.205C>T	ENSP00000389344.1:p.Pro69Ser
ENST00000619181.4:c.1293+64C>T	ENSP00000483866.1:n.1293+64C>T
NM_000085.4:c.1738C>T	NP_000076.2:p.Pro580Ser
NM_001165945.2:c.1231C>T	NP_001159417.2:p.Pro411Ser
XM_011540619.1:c.1579C>T	XP_011538921.1:p.Pro527Ser
XM_011540621.1:c.1087C>T	XP_011538923.1:p.Pro363Ser
NM_000085.5:c.1738C>T MANE Select	NP_000076.2:p.Pro580Ser