Canonical Allele Identifier: CA1108123025

Gene: CLCN1

Linked Data

• dbSNP Id: rs1802525263
• gnomAD v3: 7-143324389-T-C
• gnomAD v4: 7-143324389-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143324389T>C , CM000669.2:g.143324389T>C	GRCh38
NC_000007.13:g.143021482T>C , CM000669.1:g.143021482T>C	GRCh37
NC_000007.12:g.142731604T>C	NCBI36
NG_009815.1:g.13264T>C
NG_009815.2:g.13264T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.853+492T>C	ENSP00000498052.2:n.853+492T>C
ENST00000343257.7:c.775-25T>C MANE Select	ENSP00000339867.2:n.775-25T>C
ENST00000432192.6:c.599-25T>C
ENST00000455478.6:c.363-25T>C	ENSP00000400027.2:n.363-25T>C
ENST00000650516.1:c.853+492T>C	ENSP00000498052.1:n.853+492T>C
ENST00000343257.6:c.775-25T>C	ENSP00000339867.2:n.775-25T>C
ENST00000432192.5:c.289-25T>C
ENST00000455478.5:c.367-25T>C
ENST00000495612.1:n.154+2541T>C
NM_000083.2:c.775-25T>C	NP_000074.2:n.775-25T>C
NR_046453.1:n.862-22T>C
XM_011515781.1:c.853+492T>C	XP_011514083.1:n.853+492T>C
XM_017011739.1:c.403+2541T>C	XP_016867228.1:n.403+2541T>C
XM_017011740.1:c.403+2541T>C	XP_016867229.1:n.403+2541T>C
NM_000083.3:c.775-25T>C MANE Select	NP_000074.3:n.775-25T>C
NR_046453.2:n.877-22T>C