Canonical Allele Identifier: CA578444511

Gene: CLCN1

Linked Data

• dbSNP Id: rs986558615
• gnomAD v2: 7-143018993-G-C
• gnomAD v4: 7-143321900-G-C
• MyVariant Identifiers: chr7:g.143018993G>C (hg19) ; chr7:g.143321900G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321900G>C , CM000669.2:g.143321900G>C	GRCh38
NC_000007.13:g.143018993G>C , CM000669.1:g.143018993G>C	GRCh37
NC_000007.12:g.142729115G>C	NCBI36
NG_009815.1:g.10775G>C
NG_009815.2:g.10775G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.696+52G>C	ENSP00000498052.2:n.696+52G>C
ENST00000343257.7:c.696+52G>C MANE Select	ENSP00000339867.2:n.696+52G>C
ENST00000432192.6:c.464+52G>C
ENST00000455478.6:c.150+52G>C	ENSP00000400027.2:n.150+52G>C
ENST00000650516.1:c.696+52G>C	ENSP00000498052.1:n.696+52G>C
ENST00000343257.6:c.696+52G>C	ENSP00000339867.2:n.696+52G>C
ENST00000432192.5:c.154+52G>C
ENST00000455478.5:c.154+52G>C
ENST00000495612.1:n.154+52G>C
NM_000083.2:c.696+52G>C	NP_000074.2:n.696+52G>C
NR_046453.1:n.783+52G>C
XM_011515781.1:c.696+52G>C	XP_011514083.1:n.696+52G>C
XM_017011739.1:c.403+52G>C	XP_016867228.1:n.403+52G>C
XM_017011740.1:c.403+52G>C	XP_016867229.1:n.403+52G>C
NM_000083.3:c.696+52G>C MANE Select	NP_000074.3:n.696+52G>C
NR_046453.2:n.798+52G>C