Canonical Allele Identifier: CA4537831

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 359129
• ClinVar RCV Id: RCV000366724 ; RCV003144241
• dbSNP Id: rs202172391
• ExAC: 7:143049087 C / A
• gnomAD v2: 7-143049087-C-A
• gnomAD v3: 7-143351994-C-A
• gnomAD v4: 7-143351994-C-A
• MyVariant Identifiers: chr7:g.143049087C>A (hg19) ; chr7:g.143351994C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351994C>A , CM000669.2:g.143351994C>A	GRCh38
NC_000007.13:g.143049087C>A , CM000669.1:g.143049087C>A	GRCh37
NC_000007.12:g.142759209C>A	NCBI36
NG_009815.1:g.40869C>A
NG_009815.2:g.40869C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.*29C>A	ENSP00000498052.2:n.*29C>A
ENST00000343257.7:c.*29C>A MANE Select	ENSP00000339867.2:n.*29C>A
ENST00000343257.6:c.*29C>A	ENSP00000339867.2:n.*29C>A
NM_000083.2:c.*29C>A	NP_000074.2:n.*29C>A
NR_046453.1:n.2936C>A
XM_011515781.1:c.*29C>A	XP_011514083.1:n.*29C>A
XM_011515782.1:c.*29C>A	XP_011514084.1:n.*29C>A
XM_011515782.2:c.*29C>A	XP_011514084.1:n.*29C>A
XM_017011739.1:c.*29C>A	XP_016867228.1:n.*29C>A
XM_017011740.1:c.*29C>A	XP_016867229.1:n.*29C>A
NM_000083.3:c.*29C>A MANE Select	NP_000074.3:n.*29C>A
NR_046453.2:n.2951C>A