Canonical Allele Identifier: CA620698120

Gene: CLCN7

Linked Data

• dbSNP Id: rs1262676303
• gnomAD v2: 16-1497304-C-T
• gnomAD v3: 16-1447303-C-T
• gnomAD v4: 16-1447303-C-T
• MyVariant Identifiers: chr16:g.1497304C>T (hg19) ; chr16:g.1447303C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447303C>T , CM000678.2:g.1447303C>T	GRCh38
NC_000016.9:g.1497304C>T , CM000678.1:g.1497304C>T	GRCh37
NC_000016.8:g.1437305C>T	NCBI36
NG_007567.1:g.32782G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2250+89G>A	ENSP00000514703.1:n.2250+89G>A
ENST00000699948.1:c.*563+89G>A	ENSP00000514704.1:n.*563+89G>A
ENST00000382745.9:c.2250+89G>A MANE Select	ENSP00000372193.4:n.2250+89G>A
ENST00000262318.12:c.2182+85G>A	ENSP00000262318.8:n.2182+85G>A
ENST00000382745.8:c.2250+89G>A	ENSP00000372193.4:n.2250+89G>A
ENST00000448525.5:c.2178+89G>A	ENSP00000410907.1:n.2178+89G>A
ENST00000563642.6:n.2319+89G>A
ENST00000565092.6:n.1285+89G>A
ENST00000567836.2:n.491+89G>A
NM_001114331.2:c.2178+89G>A	NP_001107803.1:n.2178+89G>A
NM_001287.5:c.2250+89G>A	NP_001278.1:n.2250+89G>A
XM_011522354.1:c.2076+89G>A	XP_011520656.1:n.2076+89G>A
NM_001287.6:c.2250+89G>A MANE Select	NP_001278.1:n.2250+89G>A
NM_001114331.3:c.2178+89G>A	NP_001107803.1:n.2178+89G>A