Canonical Allele Identifier: CA2685379903

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143341877-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341877C>A , CM000669.2:g.143341877C>A	GRCh38
NC_000007.13:g.143038970C>A , CM000669.1:g.143038970C>A	GRCh37
NC_000007.12:g.142749092C>A	NCBI36
NG_009815.1:g.30752C>A
NG_009815.2:g.30752C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.1583-52C>A	ENSP00000498052.2:n.1583-52C>A
ENST00000343257.7:c.1583-52C>A MANE Select	ENSP00000339867.2:n.1583-52C>A
ENST00000432192.6:c.1407-52C>A
ENST00000343257.6:c.1583-52C>A	ENSP00000339867.2:n.1583-52C>A
NM_000083.2:c.1583-52C>A	NP_000074.2:n.1583-52C>A
NR_046453.1:n.1523-52C>A
XM_011515781.1:c.1607-52C>A	XP_011514083.1:n.1607-52C>A
XM_011515782.1:c.329-52C>A	XP_011514084.1:n.329-52C>A
XM_011515782.2:c.329-52C>A	XP_011514084.1:n.329-52C>A
XM_017011739.1:c.1157-52C>A	XP_016867228.1:n.1157-52C>A
XM_017011740.1:c.1133-52C>A	XP_016867229.1:n.1133-52C>A
NM_000083.3:c.1583-52C>A MANE Select	NP_000074.3:n.1583-52C>A
NR_046453.2:n.1538-52C>A