Canonical Allele Identifier: CA2685383454

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143351999-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351999A>G , CM000669.2:g.143351999A>G	GRCh38
NC_000007.13:g.143049092A>G , CM000669.1:g.143049092A>G	GRCh37
NC_000007.12:g.142759214A>G	NCBI36
NG_009815.1:g.40874A>G
NG_009815.2:g.40874A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.*34A>G	ENSP00000498052.2:n.*34A>G
ENST00000343257.7:c.*34A>G MANE Select	ENSP00000339867.2:n.*34A>G
ENST00000343257.6:c.*34A>G	ENSP00000339867.2:n.*34A>G
NM_000083.2:c.*34A>G	NP_000074.2:n.*34A>G
NR_046453.1:n.2941A>G
XM_011515781.1:c.*34A>G	XP_011514083.1:n.*34A>G
XM_011515782.1:c.*34A>G	XP_011514084.1:n.*34A>G
XM_011515782.2:c.*34A>G	XP_011514084.1:n.*34A>G
XM_017011739.1:c.*34A>G	XP_016867228.1:n.*34A>G
XM_017011740.1:c.*34A>G	XP_016867229.1:n.*34A>G
NM_000083.3:c.*34A>G MANE Select	NP_000074.3:n.*34A>G
NR_046453.2:n.2956A>G