Canonical Allele Identifier: CA168258833

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1807077
• ClinVar RCV Id: RCV002475034 ; RCV003775544
• dbSNP Id: rs947251147
• gnomAD v2: 7-143021557-C-T
• gnomAD v3: 7-143324464-C-T
• gnomAD v4: 7-143324464-C-T
• COSMIC: COSM5406830
• MyVariant Identifiers: chr7:g.143021557C>T (hg19) ; chr7:g.143324464C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324464C>T , CM000669.2:g.143324464C>T	GRCh38
NC_000007.13:g.143021557C>T , CM000669.1:g.143021557C>T	GRCh37
NC_000007.12:g.142731679C>T	NCBI36
NG_009815.1:g.13339C>T
NG_009815.2:g.13339C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.853+567C>T	ENSP00000498052.2:n.853+567C>T
ENST00000343257.7:c.825C>T MANE Select	ENSP00000339867.2:p.Val275=
ENST00000432192.6:c.649C>T
ENST00000455478.6:c.413C>T	ENSP00000400027.2:n.413C>T
ENST00000650516.1:c.853+567C>T	ENSP00000498052.1:n.853+567C>T
ENST00000343257.6:c.825C>T	ENSP00000339867.2:p.Val275=
ENST00000432192.5:c.339C>T
ENST00000455478.5:c.417C>T
ENST00000495612.1:n.154+2616C>T
NM_000083.2:c.825C>T	NP_000074.2:p.Val275=
NR_046453.1:n.915C>T
XM_011515781.1:c.853+567C>T	XP_011514083.1:n.853+567C>T
XM_017011739.1:c.403+2616C>T	XP_016867228.1:n.403+2616C>T
XM_017011740.1:c.403+2616C>T	XP_016867229.1:n.403+2616C>T
NM_000083.3:c.825C>T MANE Select	NP_000074.3:p.Val275=
NR_046453.2:n.930C>T