Canonical Allele Identifier: CA7810811

Gene: CLCN7

Linked Data

• dbSNP Id: rs756456860
• ExAC: 16:1510982 G / A
• gnomAD v2: 16-1510982-G-A
• gnomAD v4: 16-1460981-G-A
• MyVariant Identifiers: chr16:g.1510982G>A (hg19) ; chr16:g.1460981G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460981G>A , CM000678.2:g.1460981G>A	GRCh38
NC_000016.9:g.1510982G>A , CM000678.1:g.1510982G>A	GRCh37
NC_000016.8:g.1450983G>A	NCBI36
NG_007567.1:g.19104C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.352-33C>T	ENSP00000514703.1:n.352-33C>T
ENST00000699948.1:c.352-33C>T	ENSP00000514704.1:n.352-33C>T
ENST00000699950.1:n.304-33C>T
ENST00000382745.9:c.352-33C>T MANE Select	ENSP00000372193.4:n.352-33C>T
ENST00000262318.12:c.280-33C>T	ENSP00000262318.8:n.280-33C>T
ENST00000382745.8:c.352-33C>T	ENSP00000372193.4:n.352-33C>T
ENST00000448525.5:c.280-33C>T	ENSP00000410907.1:n.280-33C>T
ENST00000561665.5:n.382-33C>T
ENST00000564568.1:c.247-33C>T	ENSP00000454845.1:n.247-33C>T
ENST00000567139.1:n.403-33C>T
ENST00000569851.6:c.178-33C>T	ENSP00000461009.1:n.178-33C>T
NM_001114331.2:c.280-33C>T	NP_001107803.1:n.280-33C>T
NM_001287.5:c.352-33C>T	NP_001278.1:n.352-33C>T
XM_011522354.1:c.178-33C>T	XP_011520656.1:n.178-33C>T
NM_001287.6:c.352-33C>T MANE Select	NP_001278.1:n.352-33C>T
NM_001114331.3:c.280-33C>T	NP_001107803.1:n.280-33C>T