Canonical Allele Identifier: CA4537060

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1356988
• ClinVar RCV Id: RCV001870375
• dbSNP Id: rs765718767
• ExAC: 7:143020417 A / G
• gnomAD v4: 7-143323324-A-G
• MyVariant Identifiers: chr7:g.143020417A>G (hg19) ; chr7:g.143323324A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143323324A>G , CM000669.2:g.143323324A>G	GRCh38
NC_000007.13:g.143020417A>G , CM000669.1:g.143020417A>G	GRCh37
NC_000007.12:g.142730539A>G	NCBI36
NG_009815.1:g.12199A>G
NG_009815.2:g.12199A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.712A>G	ENSP00000498052.2:p.Ile238Val
ENST00000343257.7:c.712A>G MANE Select	ENSP00000339867.2:p.Ile238Val
ENST00000432192.6:c.465-249A>G
ENST00000455478.6:c.166A>G	ENSP00000400027.2:p.Ile56Val
ENST00000650516.1:c.712A>G	ENSP00000498052.1:p.Ile238Val
ENST00000343257.6:c.712A>G	ENSP00000339867.2:p.Ile238Val
ENST00000432192.5:c.155-249A>G
ENST00000455478.5:c.170A>G
ENST00000495612.1:n.154+1476A>G
NM_000083.2:c.712A>G	NP_000074.2:p.Ile238Val
NR_046453.1:n.799A>G
XM_011515781.1:c.712A>G	XP_011514083.1:p.Ile238Val
XM_017011739.1:c.403+1476A>G	XP_016867228.1:n.403+1476A>G
XM_017011740.1:c.403+1476A>G	XP_016867229.1:n.403+1476A>G
NM_000083.3:c.712A>G MANE Select	NP_000074.3:p.Ile238Val
NR_046453.2:n.814A>G