Canonical Allele Identifier: CA16618365
Gene: CLCN1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.143332860T>G
GRCh37 chr7:g.143029953T>G
Revel Score:
ENST00000343257 (MANE Select) 0.958
gnomAD v3:
7:143332860 T / G
gnomAD v4:
chr7-143332860-T-G
Joint Max Group AF 0.00000183 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV002525941
RCV003332183
ClinVar Variation:
423657
dbSNP:
1064796557
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143332860T>G , CM000669.2:g.143332860T>G GRCh38
NC_000007.13:g.143029953T>G , CM000669.1:g.143029953T>G GRCh37
NC_000007.12:g.142740075T>G NCBI36
NG_009815.1:g.21735T>G
NG_009815.2:g.21735T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1388T>G ENSP00000498052.2:p.Phe463Cys
ENST00000343257.7:c.1388T>G MANE Select ENSP00000339867.2:p.Phe463Cys
ENST00000432192.6:c.1212T>G
ENST00000343257.6:c.1388T>G ENSP00000339867.2:p.Phe463Cys
NM_000083.2:c.1388T>G NP_000074.2:p.Phe463Cys
NR_046453.1:n.1341+357T>G
XM_011515781.1:c.1412T>G XP_011514083.1:p.Phe471Cys
XM_011515782.1:c.134T>G XP_011514084.1:p.Phe45Cys
XM_011515782.2:c.134T>G XP_011514084.1:p.Phe45Cys
XM_017011739.1:c.962T>G XP_016867228.1:p.Phe321Cys
XM_017011740.1:c.938T>G XP_016867229.1:p.Phe313Cys
NM_000083.3:c.1388T>G MANE Select NP_000074.3:p.Phe463Cys
NR_046453.2:n.1356+357T>G
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