Canonical Allele Identifier: CA4537337
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1309580
ClinVar RCV Id: RCV001765749 RCV001882893
dbSNP Id: rs139158852
ExAC: 7:143029958 G / A
gnomAD v2: 7-143029958-G-A
gnomAD v3: 7-143332865-G-A
gnomAD v4: 7-143332865-G-A
COSMIC: COSM122179
MyVariant Identifiers: chr7:g.143029958G>A (hg19) chr7:g.143332865G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143332865G>A , CM000669.2:g.143332865G>A GRCh38
NC_000007.13:g.143029958G>A , CM000669.1:g.143029958G>A GRCh37
NC_000007.12:g.142740080G>A NCBI36
NG_009815.1:g.21740G>A
NG_009815.2:g.21740G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650516.2:c.1393G>A ENSP00000498052.2:p.Val465Ile
ENST00000343257.7:c.1393G>A MANE Select ENSP00000339867.2:p.Val465Ile
ENST00000432192.6:c.1217G>A
ENST00000343257.6:c.1393G>A ENSP00000339867.2:p.Val465Ile
NM_000083.2:c.1393G>A NP_000074.2:p.Val465Ile
NR_046453.1:n.1341+362G>A
XM_011515781.1:c.1417G>A XP_011514083.1:p.Val473Ile
XM_011515782.1:c.139G>A XP_011514084.1:p.Val47Ile
XM_011515782.2:c.139G>A XP_011514084.1:p.Val47Ile
XM_017011739.1:c.967G>A XP_016867228.1:p.Val323Ile
XM_017011740.1:c.943G>A XP_016867229.1:p.Val315Ile
NM_000083.3:c.1393G>A MANE Select NP_000074.3:p.Val465Ile
NR_046453.2:n.1356+362G>A
Search 100 bp 5'
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