Canonical Allele Identifier: CA168258821

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 663722
• ClinVar RCV Id: RCV000821657 ; RCV001091921
• dbSNP Id: rs921162119
• gnomAD v2: 7-143021549-G-A
• gnomAD v3: 7-143324456-G-A
• gnomAD v4: 7-143324456-G-A
• MyVariant Identifiers: chr7:g.143021549G>A (hg19) ; chr7:g.143324456G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324456G>A , CM000669.2:g.143324456G>A	GRCh38
NC_000007.13:g.143021549G>A , CM000669.1:g.143021549G>A	GRCh37
NC_000007.12:g.142731671G>A	NCBI36
NG_009815.1:g.13331G>A
NG_009815.2:g.13331G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.853+559G>A	ENSP00000498052.2:n.853+559G>A
ENST00000343257.7:c.817G>A MANE Select	ENSP00000339867.2:p.Val273Met
ENST00000432192.6:c.641G>A
ENST00000455478.6:c.405G>A	ENSP00000400027.2:n.405G>A
ENST00000650516.1:c.853+559G>A	ENSP00000498052.1:n.853+559G>A
ENST00000343257.6:c.817G>A	ENSP00000339867.2:p.Val273Met
ENST00000432192.5:c.331G>A
ENST00000455478.5:c.409G>A
ENST00000495612.1:n.154+2608G>A
NM_000083.2:c.817G>A	NP_000074.2:p.Val273Met
NR_046453.1:n.907G>A
XM_011515781.1:c.853+559G>A	XP_011514083.1:n.853+559G>A
XM_017011739.1:c.403+2608G>A	XP_016867228.1:n.403+2608G>A
XM_017011740.1:c.403+2608G>A	XP_016867229.1:n.403+2608G>A
NM_000083.3:c.817G>A MANE Select	NP_000074.3:p.Val273Met
NR_046453.2:n.922G>A