Canonical Allele Identifier: CA7810758
Gene: CLCN7 HGNC NCBI
COSMIC:
COSN19656427 (not active)
MyVariant.info:
GRCh38 chr16:g.1460566T>G
GRCh37 chr16:g.1510567T>G
gnomAD v2:
16:1510567 T / G
gnomAD v3:
16:1460566 T / G
gnomAD v4:
chr16-1460566-T-G
Joint Max Group AF 0.88900887 (AFR)
Genomes Max Group AF 0.88376927 (AFR)
Exomes Max Group AF 0.89040706 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1460566T>G , CM000678.2:g.1460566T>G GRCh38
NC_000016.9:g.1510567T>G , CM000678.1:g.1510567T>G GRCh37
NC_000016.8:g.1450568T>G NCBI36
NG_007567.1:g.19519A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699947.1:c.485-39A>C ENSP00000514703.1:n.485-39A>C
ENST00000699948.1:c.485-39A>C ENSP00000514704.1:n.485-39A>C
ENST00000699950.1:n.437-39A>C
ENST00000382745.9:c.485-39A>C MANE Select ENSP00000372193.4:n.485-39A>C
ENST00000262318.12:c.413-39A>C ENSP00000262318.8:n.413-39A>C
ENST00000382745.8:c.485-39A>C ENSP00000372193.4:n.485-39A>C
ENST00000448525.5:c.413-39A>C ENSP00000410907.1:n.413-39A>C
ENST00000569851.6:c.311-39A>C ENSP00000461009.1:n.311-39A>C
NM_001114331.2:c.413-39A>C NP_001107803.1:n.413-39A>C
NM_001287.5:c.485-39A>C NP_001278.1:n.485-39A>C
XM_011522354.1:c.311-39A>C XP_011520656.1:n.311-39A>C
NM_001287.6:c.485-39A>C MANE Select NP_001278.1:n.485-39A>C
NM_001114331.3:c.413-39A>C NP_001107803.1:n.413-39A>C
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