Canonical Allele Identifier: CA1108121852

Gene: CLCN1

Linked Data

• dbSNP Id: rs1802423930
• gnomAD v3: 7-143321289-C-T
• gnomAD v4: 7-143321289-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321289C>T , CM000669.2:g.143321289C>T	GRCh38
NC_000007.13:g.143018382C>T , CM000669.1:g.143018382C>T	GRCh37
NC_000007.12:g.142728504C>T	NCBI36
NG_009815.1:g.10164C>T
NG_009815.2:g.10164C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.434-76C>T	ENSP00000498052.2:n.434-76C>T
ENST00000343257.7:c.434-76C>T MANE Select	ENSP00000339867.2:n.434-76C>T
ENST00000432192.6:c.202-76C>T
ENST00000650516.1:c.434-76C>T	ENSP00000498052.1:n.434-76C>T
ENST00000343257.6:c.434-76C>T	ENSP00000339867.2:n.434-76C>T
NM_000083.2:c.434-76C>T	NP_000074.2:n.434-76C>T
NR_046453.1:n.521-76C>T
XM_011515781.1:c.434-76C>T	XP_011514083.1:n.434-76C>T
XM_017011739.1:c.141-76C>T	XP_016867228.1:n.141-76C>T
XM_017011740.1:c.141-76C>T	XP_016867229.1:n.141-76C>T
NM_000083.3:c.434-76C>T MANE Select	NP_000074.3:n.434-76C>T
NR_046453.2:n.536-76C>T