Canonical Allele Identifier: CA4537013

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 661828
• ClinVar RCV Id: RCV000819331 ; RCV003145199
• dbSNP Id: rs769612798
• ExAC: 7:143018846 G / A
• gnomAD v2: 7-143018846-G-A
• gnomAD v3: 7-143321753-G-A
• gnomAD v4: 7-143321753-G-A
• MyVariant Identifiers: chr7:g.143018846G>A (hg19) ; chr7:g.143321753G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321753G>A , CM000669.2:g.143321753G>A	GRCh38
NC_000007.13:g.143018846G>A , CM000669.1:g.143018846G>A	GRCh37
NC_000007.12:g.142728968G>A	NCBI36
NG_009815.1:g.10628G>A
NG_009815.2:g.10628G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.601G>A	ENSP00000498052.2:p.Val201Ile
ENST00000343257.7:c.601G>A MANE Select	ENSP00000339867.2:p.Val201Ile
ENST00000432192.6:c.369G>A
ENST00000455478.6:c.55G>A	ENSP00000400027.2:p.Val19Ile
ENST00000650516.1:c.601G>A	ENSP00000498052.1:p.Val201Ile
ENST00000343257.6:c.601G>A	ENSP00000339867.2:p.Val201Ile
ENST00000432192.5:c.59G>A
ENST00000455478.5:c.59G>A
ENST00000495612.1:n.59G>A
NM_000083.2:c.601G>A	NP_000074.2:p.Val201Ile
NR_046453.1:n.688G>A
XM_011515781.1:c.601G>A	XP_011514083.1:p.Val201Ile
XM_017011739.1:c.308G>A	XP_016867228.1:p.Gly103Asp
XM_017011740.1:c.308G>A	XP_016867229.1:p.Gly103Asp
NM_000083.3:c.601G>A MANE Select	NP_000074.3:p.Val201Ile
NR_046453.2:n.703G>A