Canonical Allele Identifier: CA2573141809

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1566601
• ClinVar RCV Id: RCV002207499
• dbSNP Id: rs2116401011

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351587T>C , CM000669.2:g.143351587T>C	GRCh38
NC_000007.13:g.143048680T>C , CM000669.1:g.143048680T>C	GRCh37
NC_000007.12:g.142758802T>C	NCBI36
NG_009815.1:g.40462T>C
NG_009815.2:g.40462T>C

Transcript Alleles

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