Canonical Allele Identifier: CA16042924
Gene: CLCN7 HGNC NCBI

Linked Data

ClinVar Variation Id: 372326
ClinVar RCV Id: RCV000412760 RCV000824813
dbSNP Id: rs1057517718
gnomAD v4: 16-1447498-T-C
MyVariant Identifiers: chr16:g.1497499T>C (hg19) chr16:g.1447498T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1447498T>C , CM000678.2:g.1447498T>C GRCh38
NC_000016.9:g.1497499T>C , CM000678.1:g.1497499T>C GRCh37
NC_000016.8:g.1437500T>C NCBI36
NG_007567.1:g.32587A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000699947.1:c.2144A>G ENSP00000514703.1:p.Tyr715Cys
ENST00000699948.1:c.*457A>G ENSP00000514704.1:n.*457A>G
ENST00000382745.9:c.2144A>G MANE Select ENSP00000372193.4:p.Tyr715Cys
ENST00000262318.12:c.2072A>G ENSP00000262318.8:p.Tyr691Cys
ENST00000382745.8:c.2144A>G ENSP00000372193.4:p.Tyr715Cys
ENST00000448525.5:c.2072A>G ENSP00000410907.1:p.Tyr691Cys
ENST00000563642.6:n.2213A>G
ENST00000565092.6:n.1179A>G
ENST00000567836.2:n.385A>G
NM_001114331.2:c.2072A>G NP_001107803.1:p.Tyr691Cys
NM_001287.5:c.2144A>G NP_001278.1:p.Tyr715Cys
XM_011522354.1:c.1970A>G XP_011520656.1:p.Tyr657Cys
NM_001287.6:c.2144A>G MANE Select NP_001278.1:p.Tyr715Cys
NM_001114331.3:c.2072A>G NP_001107803.1:p.Tyr691Cys
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