Canonical Allele Identifier: CA718309748

Gene: CLCN7

Linked Data

• dbSNP Id: rs1225372432
• gnomAD v3: 16-1449208-A-C
• gnomAD v4: 16-1449208-A-C
• MyVariant Identifiers: chr16:g.1499209A>C (hg19) ; chr16:g.1449208A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1449208A>C , CM000678.2:g.1449208A>C	GRCh38
NC_000016.9:g.1499209A>C , CM000678.1:g.1499209A>C	GRCh37
NC_000016.8:g.1439210A>C	NCBI36
NG_007567.1:g.30877T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.1669+68T>G	ENSP00000514703.1:n.1669+68T>G
ENST00000699948.1:c.1624-115T>G	ENSP00000514704.1:n.1624-115T>G
ENST00000382745.9:c.1669+68T>G MANE Select	ENSP00000372193.4:n.1669+68T>G
ENST00000262318.12:c.1597+68T>G	ENSP00000262318.8:n.1597+68T>G
ENST00000382745.8:c.1669+68T>G	ENSP00000372193.4:n.1669+68T>G
ENST00000448525.5:c.1597+68T>G	ENSP00000410907.1:n.1597+68T>G
ENST00000563642.6:n.1738+68T>G
ENST00000565092.6:n.590T>G
ENST00000567789.1:n.56T>G
NM_001114331.2:c.1597+68T>G	NP_001107803.1:n.1597+68T>G
NM_001287.5:c.1669+68T>G	NP_001278.1:n.1669+68T>G
XM_011522354.1:c.1495+68T>G	XP_011520656.1:n.1495+68T>G
NM_001287.6:c.1669+68T>G MANE Select	NP_001278.1:n.1669+68T>G
NM_001114331.3:c.1597+68T>G	NP_001107803.1:n.1597+68T>G