Canonical Allele Identifier: CA168221899

Gene: CLCN1

Linked Data

• dbSNP Id: rs1039308624
• gnomAD v2: 7-143039351-T-G
• gnomAD v3: 7-143342258-T-G
• gnomAD v4: 7-143342258-T-G
• MyVariant Identifiers: chr7:g.143039351T>G (hg19) ; chr7:g.143342258T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342258T>G , CM000669.2:g.143342258T>G	GRCh38
NC_000007.13:g.143039351T>G , CM000669.1:g.143039351T>G	GRCh37
NC_000007.12:g.142749473T>G	NCBI36
NG_009815.1:g.31133T>G
NG_009815.2:g.31133T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1797-114T>G	ENSP00000498052.2:n.1797-114T>G
ENST00000343257.7:c.1797-114T>G MANE Select	ENSP00000339867.2:n.1797-114T>G
ENST00000432192.6:c.1621-114T>G
ENST00000343257.6:c.1797-114T>G	ENSP00000339867.2:n.1797-114T>G
NM_000083.2:c.1797-114T>G	NP_000074.2:n.1797-114T>G
NR_046453.1:n.1737-114T>G
XM_011515781.1:c.1821-114T>G	XP_011514083.1:n.1821-114T>G
XM_011515782.1:c.543-114T>G	XP_011514084.1:n.543-114T>G
XM_011515782.2:c.543-114T>G	XP_011514084.1:n.543-114T>G
XM_017011739.1:c.1371-114T>G	XP_016867228.1:n.1371-114T>G
XM_017011740.1:c.1347-114T>G	XP_016867229.1:n.1347-114T>G
NM_000083.3:c.1797-114T>G MANE Select	NP_000074.3:n.1797-114T>G
NR_046453.2:n.1752-114T>G