Canonical Allele Identifier: CA2740094911

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2942921
• ClinVar RCV Id: RCV003808087

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332512T>C , CM000669.2:g.143332512T>C	GRCh38
NC_000007.13:g.143029605T>C , CM000669.1:g.143029605T>C	GRCh37
NC_000007.12:g.142739727T>C	NCBI36
NG_009815.1:g.21387T>C
NG_009815.2:g.21387T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1251+9T>C	ENSP00000498052.2:n.1251+9T>C
ENST00000343257.7:c.1251+9T>C MANE Select	ENSP00000339867.2:n.1251+9T>C
ENST00000432192.6:c.1075+9T>C
ENST00000343257.6:c.1251+9T>C	ENSP00000339867.2:n.1251+9T>C
NM_000083.2:c.1251+9T>C	NP_000074.2:n.1251+9T>C
NR_046453.1:n.1341+9T>C
XM_011515781.1:c.1260T>C	XP_011514083.1:p.Cys420=
XM_011515782.1:c.-3-212T>C	XP_011514084.1:n.-3-212T>C
XM_011515782.2:c.-3-212T>C	XP_011514084.1:n.-3-212T>C
XM_017011739.1:c.810T>C	XP_016867228.1:p.Cys270=
XM_017011740.1:c.801+9T>C	XP_016867229.1:n.801+9T>C
NM_000083.3:c.1251+9T>C MANE Select	NP_000074.3:n.1251+9T>C
NR_046453.2:n.1356+9T>C