Canonical Allele Identifier: CA344953
Gene: CLCN7 HGNC NCBI
COSMIC:
COSM3754667 (not active)
MyVariant.info:
GRCh38 chr16:g.1452856C>T
GRCh37 chr16:g.1502857C>T
Revel Score:
ENST00000448525 0.210
ENST00000262318 0.210
ENST00000382745 (MANE Select) 0.210
ENST00000428756 0.210
gnomAD v2:
16:1502857 C / T
gnomAD v3:
16:1452856 C / T
gnomAD v4:
chr16-1452856-C-T
Joint Max Group AF 0.16503268 (AFR)
Genomes Max Group AF 0.16189006 (AFR)
Exomes Max Group AF 0.16674316 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1452856C>T , CM000678.2:g.1452856C>T GRCh38
NC_000016.9:g.1502857C>T , CM000678.1:g.1502857C>T GRCh37
NC_000016.8:g.1442858C>T NCBI36
NG_007567.1:g.27229G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699947.1:c.1252G>A ENSP00000514703.1:p.Val418Met
ENST00000699948.1:c.1252G>A ENSP00000514704.1:p.Val418Met
ENST00000382745.9:c.1252G>A MANE Select ENSP00000372193.4:p.Val418Met
ENST00000262318.12:c.1180G>A ENSP00000262318.8:p.Val394Met
ENST00000382745.8:c.1252G>A ENSP00000372193.4:p.Val418Met
ENST00000448525.5:c.1180G>A ENSP00000410907.1:p.Val394Met
NM_001114331.2:c.1180G>A NP_001107803.1:p.Val394Met
NM_001287.5:c.1252G>A NP_001278.1:p.Val418Met
XM_011522354.1:c.1078G>A XP_011520656.1:p.Val360Met
NM_001287.6:c.1252G>A MANE Select NP_001278.1:p.Val418Met
NM_001114331.3:c.1180G>A NP_001107803.1:p.Val394Met
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