Canonical Allele Identifier: CA578626958

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2197176
• ClinVar RCV Id: RCV002624752
• dbSNP Id: rs1388045310
• gnomAD v2: 7-143048671-T-A
• gnomAD v3: 7-143351578-T-A
• gnomAD v4: 7-143351578-T-A
• MyVariant Identifiers: chr7:g.143048671T>A (hg19) ; chr7:g.143351578T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351578T>A , CM000669.2:g.143351578T>A	GRCh38
NC_000007.13:g.143048671T>A , CM000669.1:g.143048671T>A	GRCh37
NC_000007.12:g.142758793T>A	NCBI36
NG_009815.1:g.40453T>A
NG_009815.2:g.40453T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2596-16T>A	ENSP00000498052.2:n.2596-16T>A
ENST00000343257.7:c.2596-16T>A MANE Select	ENSP00000339867.2:n.2596-16T>A
ENST00000432192.6:c.2420-16T>A
ENST00000343257.6:c.2596-16T>A	ENSP00000339867.2:n.2596-16T>A
NM_000083.2:c.2596-16T>A	NP_000074.2:n.2596-16T>A
NR_046453.1:n.2536-16T>A
XM_011515781.1:c.2620-16T>A	XP_011514083.1:n.2620-16T>A
XM_011515782.1:c.1342-16T>A	XP_011514084.1:n.1342-16T>A
XM_011515782.2:c.1342-16T>A	XP_011514084.1:n.1342-16T>A
XM_017011739.1:c.2170-16T>A	XP_016867228.1:n.2170-16T>A
XM_017011740.1:c.2146-16T>A	XP_016867229.1:n.2146-16T>A
NM_000083.3:c.2596-16T>A MANE Select	NP_000074.3:n.2596-16T>A
NR_046453.2:n.2551-16T>A