Canonical Allele Identifier: CA7810792

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 596869
• ClinVar RCV Id: RCV000732833
• dbSNP Id: rs201964194
• ExAC: 16:1510866 G / A
• gnomAD v2: 16-1510866-G-A
• gnomAD v3: 16-1460865-G-A
• gnomAD v4: 16-1460865-G-A
• MyVariant Identifiers: chr16:g.1510866G>A (hg19) ; chr16:g.1460865G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460865G>A , CM000678.2:g.1460865G>A	GRCh38
NC_000016.9:g.1510866G>A , CM000678.1:g.1510866G>A	GRCh37
NC_000016.8:g.1450867G>A	NCBI36
NG_007567.1:g.19220C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.435C>T	ENSP00000514703.1:p.Asp145=
ENST00000699948.1:c.435C>T	ENSP00000514704.1:p.Asp145=
ENST00000699950.1:n.387C>T
ENST00000382745.9:c.435C>T MANE Select	ENSP00000372193.4:p.Asp145=
ENST00000262318.12:c.363C>T	ENSP00000262318.8:p.Asp121=
ENST00000382745.8:c.435C>T	ENSP00000372193.4:p.Asp145=
ENST00000448525.5:c.363C>T	ENSP00000410907.1:p.Asp121=
ENST00000561665.5:n.465C>T
ENST00000564568.1:c.330C>T	ENSP00000454845.1:p.Asp110=
ENST00000567139.1:n.486C>T
ENST00000569851.6:c.261C>T	ENSP00000461009.1:p.Asp87=
NM_001114331.2:c.363C>T	NP_001107803.1:p.Asp121=
NM_001287.5:c.435C>T	NP_001278.1:p.Asp145=
XM_011522354.1:c.261C>T	XP_011520656.1:p.Asp87=
NM_001287.6:c.435C>T MANE Select	NP_001278.1:p.Asp145=
NM_001114331.3:c.363C>T	NP_001107803.1:p.Asp121=