Canonical Allele Identifier: CA4537141

Gene: CLCN1

Linked Data

• dbSNP Id: rs778260512
• ExAC: 7:143021606 C / G
• gnomAD v2: 7-143021606-C-G
• gnomAD v4: 7-143324513-C-G
• MyVariant Identifiers: chr7:g.143021606C>G (hg19) ; chr7:g.143324513C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324513C>G , CM000669.2:g.143324513C>G	GRCh38
NC_000007.13:g.143021606C>G , CM000669.1:g.143021606C>G	GRCh37
NC_000007.12:g.142731728C>G	NCBI36
NG_009815.1:g.13388C>G
NG_009815.2:g.13388C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.853+616C>G	ENSP00000498052.2:n.853+616C>G
ENST00000343257.7:c.853+21C>G MANE Select	ENSP00000339867.2:n.853+21C>G
ENST00000432192.6:c.677+21C>G
ENST00000455478.6:c.441+21C>G	ENSP00000400027.2:n.441+21C>G
ENST00000650516.1:c.853+616C>G	ENSP00000498052.1:n.853+616C>G
ENST00000343257.6:c.853+21C>G	ENSP00000339867.2:n.853+21C>G
ENST00000432192.5:c.367+21C>G
ENST00000455478.5:c.445+21C>G
ENST00000495612.1:n.154+2665C>G
NM_000083.2:c.853+21C>G	NP_000074.2:n.853+21C>G
NR_046453.1:n.943+21C>G
XM_011515781.1:c.853+616C>G	XP_011514083.1:n.853+616C>G
XM_017011739.1:c.403+2665C>G	XP_016867228.1:n.403+2665C>G
XM_017011740.1:c.403+2665C>G	XP_016867229.1:n.403+2665C>G
NM_000083.3:c.853+21C>G MANE Select	NP_000074.3:n.853+21C>G
NR_046453.2:n.958+21C>G