Canonical Allele Identifier: CA458296148

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 697714
• ClinVar RCV Id: RCV000864739 ; RCV004540182
• dbSNP Id: rs1339281633
• gnomAD v2: 7-143021512-A-G
• gnomAD v3: 7-143324419-A-G
• gnomAD v4: 7-143324419-A-G
• MyVariant Identifiers: chr7:g.143021512A>G (hg19) ; chr7:g.143324419A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324419A>G , CM000669.2:g.143324419A>G	GRCh38
NC_000007.13:g.143021512A>G , CM000669.1:g.143021512A>G	GRCh37
NC_000007.12:g.142731634A>G	NCBI36
NG_009815.1:g.13294A>G
NG_009815.2:g.13294A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.853+522A>G	ENSP00000498052.2:n.853+522A>G
ENST00000343257.7:c.780A>G MANE Select	ENSP00000339867.2:p.Pro260=
ENST00000432192.6:c.604A>G
ENST00000455478.6:c.368A>G	ENSP00000400027.2:n.368A>G
ENST00000650516.1:c.853+522A>G	ENSP00000498052.1:n.853+522A>G
ENST00000343257.6:c.780A>G	ENSP00000339867.2:p.Pro260=
ENST00000432192.5:c.294A>G
ENST00000455478.5:c.372A>G
ENST00000495612.1:n.154+2571A>G
NM_000083.2:c.780A>G	NP_000074.2:p.Pro260=
NR_046453.1:n.870A>G
XM_011515781.1:c.853+522A>G	XP_011514083.1:n.853+522A>G
XM_017011739.1:c.403+2571A>G	XP_016867228.1:n.403+2571A>G
XM_017011740.1:c.403+2571A>G	XP_016867229.1:n.403+2571A>G
NM_000083.3:c.780A>G MANE Select	NP_000074.3:p.Pro260=
NR_046453.2:n.885A>G