Canonical Allele Identifier: CA834507493

Gene: CLCN1

Linked Data

• dbSNP Id: rs1382965007
• gnomAD v2: 7-143019248-C-CCT
• gnomAD v3: 7-143322155-C-CCT
• gnomAD v4: 7-143322155-C-CCT
• MyVariant Identifiers: chr7:g.143019248_143019249insCT (hg19) ; chr7:g.143322155_143322156insCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143322158_143322159dup , CM000669.2:g.143322158_143322159dup	GRCh38
NC_000007.13:g.143019251_143019252dup , CM000669.1:g.143019251_143019252dup	GRCh37
NC_000007.12:g.142729373_142729374dup	NCBI36
NG_009815.1:g.11033_11034dup
NG_009815.2:g.11033_11034dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.696+310_696+311dup	ENSP00000498052.2:n.696+310_696+311dup
ENST00000343257.7:c.696+310_696+311dup MANE Select	ENSP00000339867.2:n.696+310_696+311dup
ENST00000432192.6:c.464+310_464+311dup
ENST00000455478.6:c.150+310_150+311dup	ENSP00000400027.2:n.150+310_150+311dup
ENST00000650516.1:c.696+310_696+311dup	ENSP00000498052.1:n.696+310_696+311dup
ENST00000343257.6:c.696+310_696+311dup	ENSP00000339867.2:n.696+310_696+311dup
ENST00000432192.5:c.154+310_154+311dup
ENST00000455478.5:c.154+310_154+311dup
ENST00000495612.1:n.154+310_154+311dup
NM_000083.2:c.696+310_696+311dup	NP_000074.2:n.696+310_696+311dup
NR_046453.1:n.783+310_783+311dup
XM_011515781.1:c.696+310_696+311dup	XP_011514083.1:n.696+310_696+311dup
XM_017011739.1:c.403+310_403+311dup	XP_016867228.1:n.403+310_403+311dup
XM_017011740.1:c.403+310_403+311dup	XP_016867229.1:n.403+310_403+311dup
NM_000083.3:c.696+310_696+311dup MANE Select	NP_000074.3:n.696+310_696+311dup
NR_046453.2:n.798+310_798+311dup