Canonical Allele Identifier: CA7810794

Gene: CLCN7

Linked Data

• dbSNP Id: rs535022444
• ExAC: 16:1510872 G / C
• gnomAD v2: 16-1510872-G-C
• gnomAD v3: 16-1460871-G-C
• gnomAD v4: 16-1460871-G-C
• MyVariant Identifiers: chr16:g.1510872G>C (hg19) ; chr16:g.1460871G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460871G>C , CM000678.2:g.1460871G>C	GRCh38
NC_000016.9:g.1510872G>C , CM000678.1:g.1510872G>C	GRCh37
NC_000016.8:g.1450873G>C	NCBI36
NG_007567.1:g.19214C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000699947.1:c.429C>G	ENSP00000514703.1:p.Phe143Leu
ENST00000699948.1:c.429C>G	ENSP00000514704.1:p.Phe143Leu
ENST00000699950.1:n.381C>G
ENST00000382745.9:c.429C>G MANE Select	ENSP00000372193.4:p.Phe143Leu
ENST00000262318.12:c.357C>G	ENSP00000262318.8:p.Phe119Leu
ENST00000382745.8:c.429C>G	ENSP00000372193.4:p.Phe143Leu
ENST00000448525.5:c.357C>G	ENSP00000410907.1:p.Phe119Leu
ENST00000561665.5:n.459C>G
ENST00000564568.1:c.324C>G	ENSP00000454845.1:p.Phe108Leu
ENST00000567139.1:n.480C>G
ENST00000569851.6:c.255C>G	ENSP00000461009.1:p.Phe85Leu
NM_001114331.2:c.357C>G	NP_001107803.1:p.Phe119Leu
NM_001287.5:c.429C>G	NP_001278.1:p.Phe143Leu
XM_011522354.1:c.255C>G	XP_011520656.1:p.Phe85Leu
NM_001287.6:c.429C>G MANE Select	NP_001278.1:p.Phe143Leu
NM_001114331.3:c.357C>G	NP_001107803.1:p.Phe119Leu