Canonical Allele Identifier: CA578444513

Gene: CLCN1

Linked Data

• dbSNP Id: rs1434889627
• gnomAD v2: 7-143019034-A-T
• gnomAD v3: 7-143321941-A-T
• gnomAD v4: 7-143321941-A-T
• MyVariant Identifiers: chr7:g.143019034A>T (hg19) ; chr7:g.143321941A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143321941A>T , CM000669.2:g.143321941A>T	GRCh38
NC_000007.13:g.143019034A>T , CM000669.1:g.143019034A>T	GRCh37
NC_000007.12:g.142729156A>T	NCBI36
NG_009815.1:g.10816A>T
NG_009815.2:g.10816A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.696+93A>T	ENSP00000498052.2:n.696+93A>T
ENST00000343257.7:c.696+93A>T MANE Select	ENSP00000339867.2:n.696+93A>T
ENST00000432192.6:c.464+93A>T
ENST00000455478.6:c.150+93A>T	ENSP00000400027.2:n.150+93A>T
ENST00000650516.1:c.696+93A>T	ENSP00000498052.1:n.696+93A>T
ENST00000343257.6:c.696+93A>T	ENSP00000339867.2:n.696+93A>T
ENST00000432192.5:c.154+93A>T
ENST00000455478.5:c.154+93A>T
ENST00000495612.1:n.154+93A>T
NM_000083.2:c.696+93A>T	NP_000074.2:n.696+93A>T
NR_046453.1:n.783+93A>T
XM_011515781.1:c.696+93A>T	XP_011514083.1:n.696+93A>T
XM_017011739.1:c.403+93A>T	XP_016867228.1:n.403+93A>T
XM_017011740.1:c.403+93A>T	XP_016867229.1:n.403+93A>T
NM_000083.3:c.696+93A>T MANE Select	NP_000074.3:n.696+93A>T
NR_046453.2:n.798+93A>T