Canonical Allele Identifier: CA394192512

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 2056502
• ClinVar RCV Id: RCV002938592
• MyVariant Identifiers: chr16:g.1510872G>T (hg19) ; chr16:g.1460871G>T (hg38)

Genomic Alleles

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

Transcript Alleles

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