Canonical Allele Identifier: CA4537439
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447054
ClinVar RCV Id: RCV001049002 RCV003338626
dbSNP Id: rs777685454
ExAC: 7:143039045 G / A
gnomAD v2: 7-143039045-G-A
gnomAD v3: 7-143341952-G-A
gnomAD v4: 7-143341952-G-A
COSMIC: COSM3878932
MyVariant Identifiers: chr7:g.143039045G>A (hg19) chr7:g.143341952G>A (hg38)
PubMed: PMID:23152584
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143341952G>A , CM000669.2:g.143341952G>A GRCh38
NC_000007.13:g.143039045G>A , CM000669.1:g.143039045G>A GRCh37
NC_000007.12:g.142749167G>A NCBI36
NG_009815.1:g.30827G>A
NG_009815.2:g.30827G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650516.2:c.1606G>A ENSP00000498052.2:p.Val536Ile
ENST00000343257.7:c.1606G>A MANE Select ENSP00000339867.2:p.Val536Ile
ENST00000432192.6:c.1430G>A
ENST00000343257.6:c.1606G>A ENSP00000339867.2:p.Val536Ile
NM_000083.2:c.1606G>A NP_000074.2:p.Val536Ile
NR_046453.1:n.1546G>A
XM_011515781.1:c.1630G>A XP_011514083.1:p.Val544Ile
XM_011515782.1:c.352G>A XP_011514084.1:p.Val118Ile
XM_011515782.2:c.352G>A XP_011514084.1:p.Val118Ile
XM_017011739.1:c.1180G>A XP_016867228.1:p.Val394Ile
XM_017011740.1:c.1156G>A XP_016867229.1:p.Val386Ile
NM_000083.3:c.1606G>A MANE Select NP_000074.3:p.Val536Ile
NR_046453.2:n.1561G>A
Search 100 bp 5'
Search 100 bp 3'