Canonical Allele Identifier: CA4537121

Gene: CLCN1

Linked Data

• dbSNP Id: rs762190011
• ExAC: 7:143021498 C / A
• gnomAD v2: 7-143021498-C-A
• gnomAD v4: 7-143324405-C-A
• MyVariant Identifiers: chr7:g.143021498C>A (hg19) ; chr7:g.143324405C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324405C>A , CM000669.2:g.143324405C>A	GRCh38
NC_000007.13:g.143021498C>A , CM000669.1:g.143021498C>A	GRCh37
NC_000007.12:g.142731620C>A	NCBI36
NG_009815.1:g.13280C>A
NG_009815.2:g.13280C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.853+508C>A	ENSP00000498052.2:n.853+508C>A
ENST00000343257.7:c.775-9C>A MANE Select	ENSP00000339867.2:n.775-9C>A
ENST00000432192.6:c.599-9C>A
ENST00000455478.6:c.363-9C>A	ENSP00000400027.2:n.363-9C>A
ENST00000650516.1:c.853+508C>A	ENSP00000498052.1:n.853+508C>A
ENST00000343257.6:c.775-9C>A	ENSP00000339867.2:n.775-9C>A
ENST00000432192.5:c.289-9C>A
ENST00000455478.5:c.367-9C>A
ENST00000495612.1:n.154+2557C>A
NM_000083.2:c.775-9C>A	NP_000074.2:n.775-9C>A
NR_046453.1:n.862-6C>A
XM_011515781.1:c.853+508C>A	XP_011514083.1:n.853+508C>A
XM_017011739.1:c.403+2557C>A	XP_016867228.1:n.403+2557C>A
XM_017011740.1:c.403+2557C>A	XP_016867229.1:n.403+2557C>A
NM_000083.3:c.775-9C>A MANE Select	NP_000074.3:n.775-9C>A
NR_046453.2:n.877-6C>A