Canonical Allele Identifier: CA1108133581

Gene: CLCN1

Linked Data

• dbSNP Id: rs1803401960
• gnomAD v4: 7-143351542-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351542T>C , CM000669.2:g.143351542T>C	GRCh38
NC_000007.13:g.143048635T>C , CM000669.1:g.143048635T>C	GRCh37
NC_000007.12:g.142758757T>C	NCBI36
NG_009815.1:g.40417T>C
NG_009815.2:g.40417T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.2596-52T>C	ENSP00000498052.2:n.2596-52T>C
ENST00000343257.7:c.2596-52T>C MANE Select	ENSP00000339867.2:n.2596-52T>C
ENST00000432192.6:c.2420-52T>C
ENST00000343257.6:c.2596-52T>C	ENSP00000339867.2:n.2596-52T>C
NM_000083.2:c.2596-52T>C	NP_000074.2:n.2596-52T>C
NR_046453.1:n.2536-52T>C
XM_011515781.1:c.2620-52T>C	XP_011514083.1:n.2620-52T>C
XM_011515782.1:c.1342-52T>C	XP_011514084.1:n.1342-52T>C
XM_011515782.2:c.1342-52T>C	XP_011514084.1:n.1342-52T>C
XM_017011739.1:c.2170-52T>C	XP_016867228.1:n.2170-52T>C
XM_017011740.1:c.2146-52T>C	XP_016867229.1:n.2146-52T>C
NM_000083.3:c.2596-52T>C MANE Select	NP_000074.3:n.2596-52T>C
NR_046453.2:n.2551-52T>C