Canonical Allele Identifier: CA1108133786

Gene: CLCN1

Linked Data

• dbSNP Id: rs1803428290
• gnomAD v3: 7-143352005-C-T
• gnomAD v4: 7-143352005-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143352005C>T , CM000669.2:g.143352005C>T	GRCh38
NC_000007.13:g.143049098C>T , CM000669.1:g.143049098C>T	GRCh37
NC_000007.12:g.142759220C>T	NCBI36
NG_009815.1:g.40880C>T
NG_009815.2:g.40880C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.*40C>T	ENSP00000498052.2:n.*40C>T
ENST00000343257.7:c.*40C>T MANE Select	ENSP00000339867.2:n.*40C>T
ENST00000343257.6:c.*40C>T	ENSP00000339867.2:n.*40C>T
XM_011515781.1:c.*40C>T	XP_011514083.1:n.*40C>T
XM_011515782.1:c.*40C>T	XP_011514084.1:n.*40C>T
XM_011515782.2:c.*40C>T	XP_011514084.1:n.*40C>T
XM_017011739.1:c.*40C>T	XP_016867228.1:n.*40C>T
XM_017011740.1:c.*40C>T	XP_016867229.1:n.*40C>T
NM_000083.3:c.*40C>T MANE Select	NP_000074.3:n.*40C>T
NR_046453.2:n.2962C>T