Canonical Allele Identifier: CA578627141

Gene: CLCN1

Linked Data

• dbSNP Id: rs1226420712
• gnomAD v2: 7-143039355-A-T
• gnomAD v3: 7-143342262-A-T
• gnomAD v4: 7-143342262-A-T
• MyVariant Identifiers: chr7:g.143039355A>T (hg19) ; chr7:g.143342262A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342262A>T , CM000669.2:g.143342262A>T	GRCh38
NC_000007.13:g.143039355A>T , CM000669.1:g.143039355A>T	GRCh37
NC_000007.12:g.142749477A>T	NCBI36
NG_009815.1:g.31137A>T
NG_009815.2:g.31137A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1797-110A>T	ENSP00000498052.2:n.1797-110A>T
ENST00000343257.7:c.1797-110A>T MANE Select	ENSP00000339867.2:n.1797-110A>T
ENST00000432192.6:c.1621-110A>T
ENST00000343257.6:c.1797-110A>T	ENSP00000339867.2:n.1797-110A>T
NM_000083.2:c.1797-110A>T	NP_000074.2:n.1797-110A>T
NR_046453.1:n.1737-110A>T
XM_011515781.1:c.1821-110A>T	XP_011514083.1:n.1821-110A>T
XM_011515782.1:c.543-110A>T	XP_011514084.1:n.543-110A>T
XM_011515782.2:c.543-110A>T	XP_011514084.1:n.543-110A>T
XM_017011739.1:c.1371-110A>T	XP_016867228.1:n.1371-110A>T
XM_017011740.1:c.1347-110A>T	XP_016867229.1:n.1347-110A>T
NM_000083.3:c.1797-110A>T MANE Select	NP_000074.3:n.1797-110A>T
NR_046453.2:n.1752-110A>T