Canonical Allele Identifier: CA7810813

Gene: CLCN7

Linked Data

• dbSNP Id: rs754075069
• ExAC: 16:1510991 C / T
• gnomAD v2: 16-1510991-C-T
• gnomAD v3: 16-1460990-C-T
• gnomAD v4: 16-1460990-C-T
• MyVariant Identifiers: chr16:g.1510991C>T (hg19) ; chr16:g.1460990C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460990C>T , CM000678.2:g.1460990C>T	GRCh38
NC_000016.9:g.1510991C>T , CM000678.1:g.1510991C>T	GRCh37
NC_000016.8:g.1450992C>T	NCBI36
NG_007567.1:g.19095G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.352-42G>A	ENSP00000514703.1:n.352-42G>A
ENST00000699948.1:c.352-42G>A	ENSP00000514704.1:n.352-42G>A
ENST00000699950.1:n.304-42G>A
ENST00000382745.9:c.352-42G>A MANE Select	ENSP00000372193.4:n.352-42G>A
ENST00000262318.12:c.280-42G>A	ENSP00000262318.8:n.280-42G>A
ENST00000382745.8:c.352-42G>A	ENSP00000372193.4:n.352-42G>A
ENST00000448525.5:c.280-42G>A	ENSP00000410907.1:n.280-42G>A
ENST00000561665.5:n.382-42G>A
ENST00000564568.1:c.247-42G>A	ENSP00000454845.1:n.247-42G>A
ENST00000567139.1:n.403-42G>A
ENST00000569851.6:c.178-42G>A	ENSP00000461009.1:n.178-42G>A
NM_001114331.2:c.280-42G>A	NP_001107803.1:n.280-42G>A
NM_001287.5:c.352-42G>A	NP_001278.1:n.352-42G>A
XM_011522354.1:c.178-42G>A	XP_011520656.1:n.178-42G>A
NM_001287.6:c.352-42G>A MANE Select	NP_001278.1:n.352-42G>A
NM_001114331.3:c.280-42G>A	NP_001107803.1:n.280-42G>A