Canonical Allele Identifier: CA2685381446

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143332522-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332522C>A , CM000669.2:g.143332522C>A	GRCh38
NC_000007.13:g.143029615C>A , CM000669.1:g.143029615C>A	GRCh37
NC_000007.12:g.142739737C>A	NCBI36
NG_009815.1:g.21397C>A
NG_009815.2:g.21397C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1251+19C>A	ENSP00000498052.2:n.1251+19C>A
ENST00000343257.7:c.1251+19C>A MANE Select	ENSP00000339867.2:n.1251+19C>A
ENST00000432192.6:c.1075+19C>A
ENST00000343257.6:c.1251+19C>A	ENSP00000339867.2:n.1251+19C>A
NM_000083.2:c.1251+19C>A	NP_000074.2:n.1251+19C>A
NR_046453.1:n.1341+19C>A
XM_011515781.1:c.1270C>A	XP_011514083.1:p.His424Asn
XM_011515782.1:c.-3-202C>A	XP_011514084.1:n.-3-202C>A
XM_011515782.2:c.-3-202C>A	XP_011514084.1:n.-3-202C>A
XM_017011739.1:c.820C>A	XP_016867228.1:p.His274Asn
XM_017011740.1:c.801+19C>A	XP_016867229.1:n.801+19C>A
NM_000083.3:c.1251+19C>A MANE Select	NP_000074.3:n.1251+19C>A
NR_046453.2:n.1356+19C>A