Canonical Allele Identifier: CA394185447

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 1348047
• ClinVar RCV Id: RCV002044123
• dbSNP Id: rs2142365554
• MyVariant Identifiers: chr16:g.1497393C>G (hg19) ; chr16:g.1447392C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447392C>G , CM000678.2:g.1447392C>G	GRCh38
NC_000016.9:g.1497393C>G , CM000678.1:g.1497393C>G	GRCh37
NC_000016.8:g.1437394C>G	NCBI36
NG_007567.1:g.32693G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2250G>C	ENSP00000514703.1:p.Gln750His
ENST00000699948.1:c.*563G>C	ENSP00000514704.1:n.*563G>C
ENST00000382745.9:c.2250G>C MANE Select	ENSP00000372193.4:p.Gln750His
ENST00000262318.12:c.2178G>C	ENSP00000262318.8:p.Gln726His
ENST00000382745.8:c.2250G>C	ENSP00000372193.4:p.Gln750His
ENST00000448525.5:c.2178G>C	ENSP00000410907.1:p.Gln726His
ENST00000563642.6:n.2319G>C
ENST00000565092.6:n.1285G>C
ENST00000567836.2:n.491G>C
NM_001114331.2:c.2178G>C	NP_001107803.1:p.Gln726His
NM_001287.5:c.2250G>C	NP_001278.1:p.Gln750His
XM_011522354.1:c.2076G>C	XP_011520656.1:p.Gln692His
NM_001287.6:c.2250G>C MANE Select	NP_001278.1:p.Gln750His
NM_001114331.3:c.2178G>C	NP_001107803.1:p.Gln726His