Canonical Allele Identifier: CA4537161

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2951911
• ClinVar RCV Id: RCV003812598
• dbSNP Id: rs370524986
• ExAC: 7:143027856 C / G
• gnomAD v2: 7-143027856-C-G
• gnomAD v3: 7-143330763-C-G
• gnomAD v4: 7-143330763-C-G
• MyVariant Identifiers: chr7:g.143027856C>G (hg19) ; chr7:g.143330763C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330763C>G , CM000669.2:g.143330763C>G	GRCh38
NC_000007.13:g.143027856C>G , CM000669.1:g.143027856C>G	GRCh37
NC_000007.12:g.142737978C>G	NCBI36
NG_009815.1:g.19638C>G
NG_009815.2:g.19638C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.854-9C>G	ENSP00000498052.2:n.854-9C>G
ENST00000343257.7:c.854-9C>G MANE Select	ENSP00000339867.2:n.854-9C>G
ENST00000432192.6:c.678-9C>G
ENST00000455478.6:c.442-9C>G	ENSP00000400027.2:n.442-9C>G
ENST00000650516.1:c.854-9C>G	ENSP00000498052.1:n.854-9C>G
ENST00000343257.6:c.854-9C>G	ENSP00000339867.2:n.854-9C>G
ENST00000432192.5:c.368-9C>G
ENST00000455478.5:c.446-9C>G
ENST00000495612.1:n.155-9C>G
NM_000083.2:c.854-9C>G	NP_000074.2:n.854-9C>G
NR_046453.1:n.944-9C>G
XM_011515781.1:c.854-9C>G	XP_011514083.1:n.854-9C>G
XM_017011739.1:c.404-9C>G	XP_016867228.1:n.404-9C>G
XM_017011740.1:c.404-9C>G	XP_016867229.1:n.404-9C>G
NM_000083.3:c.854-9C>G MANE Select	NP_000074.3:n.854-9C>G
NR_046453.2:n.959-9C>G