Canonical Allele Identifier: CA168256608

Gene: CLCN1

Linked Data

• dbSNP Id: rs1002324869
• gnomAD v3: 7-143322071-A-G
• gnomAD v4: 7-143322071-A-G
• MyVariant Identifiers: chr7:g.143019164A>G (hg19) ; chr7:g.143322071A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143322071A>G , CM000669.2:g.143322071A>G	GRCh38
NC_000007.13:g.143019164A>G , CM000669.1:g.143019164A>G	GRCh37
NC_000007.12:g.142729286A>G	NCBI36
NG_009815.1:g.10946A>G
NG_009815.2:g.10946A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.696+223A>G	ENSP00000498052.2:n.696+223A>G
ENST00000343257.7:c.696+223A>G MANE Select	ENSP00000339867.2:n.696+223A>G
ENST00000432192.6:c.464+223A>G
ENST00000455478.6:c.150+223A>G	ENSP00000400027.2:n.150+223A>G
ENST00000650516.1:c.696+223A>G	ENSP00000498052.1:n.696+223A>G
ENST00000343257.6:c.696+223A>G	ENSP00000339867.2:n.696+223A>G
ENST00000432192.5:c.154+223A>G
ENST00000455478.5:c.154+223A>G
ENST00000495612.1:n.154+223A>G
NM_000083.2:c.696+223A>G	NP_000074.2:n.696+223A>G
NR_046453.1:n.783+223A>G
XM_011515781.1:c.696+223A>G	XP_011514083.1:n.696+223A>G
XM_017011739.1:c.403+223A>G	XP_016867228.1:n.403+223A>G
XM_017011740.1:c.403+223A>G	XP_016867229.1:n.403+223A>G
NM_000083.3:c.696+223A>G MANE Select	NP_000074.3:n.696+223A>G
NR_046453.2:n.798+223A>G