Canonical Allele Identifier: CA2630990548

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1447380-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447380C>T , CM000678.2:g.1447380C>T	GRCh38
NC_000016.9:g.1497381C>T , CM000678.1:g.1497381C>T	GRCh37
NC_000016.8:g.1437382C>T	NCBI36
NG_007567.1:g.32705G>A

Transcript Alleles

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