Canonical Allele Identifier: CA578627142

Gene: CLCN1

Linked Data

• dbSNP Id: rs1291529066
• gnomAD v2: 7-143039359-A-G
• gnomAD v3: 7-143342266-A-G
• gnomAD v4: 7-143342266-A-G
• MyVariant Identifiers: chr7:g.143039359A>G (hg19) ; chr7:g.143342266A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342266A>G , CM000669.2:g.143342266A>G	GRCh38
NC_000007.13:g.143039359A>G , CM000669.1:g.143039359A>G	GRCh37
NC_000007.12:g.142749481A>G	NCBI36
NG_009815.1:g.31141A>G
NG_009815.2:g.31141A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1797-106A>G	ENSP00000498052.2:n.1797-106A>G
ENST00000343257.7:c.1797-106A>G MANE Select	ENSP00000339867.2:n.1797-106A>G
ENST00000432192.6:c.1621-106A>G
ENST00000343257.6:c.1797-106A>G	ENSP00000339867.2:n.1797-106A>G
NM_000083.2:c.1797-106A>G	NP_000074.2:n.1797-106A>G
NR_046453.1:n.1737-106A>G
XM_011515781.1:c.1821-106A>G	XP_011514083.1:n.1821-106A>G
XM_011515782.1:c.543-106A>G	XP_011514084.1:n.543-106A>G
XM_011515782.2:c.543-106A>G	XP_011514084.1:n.543-106A>G
XM_017011739.1:c.1371-106A>G	XP_016867228.1:n.1371-106A>G
XM_017011740.1:c.1347-106A>G	XP_016867229.1:n.1347-106A>G
NM_000083.3:c.1797-106A>G MANE Select	NP_000074.3:n.1797-106A>G
NR_046453.2:n.1752-106A>G