Canonical Allele Identifier: CA620698127

Gene: CLCN7

Linked Data

• dbSNP Id: rs1215530248
• gnomAD v2: 16-1497340-C-A
• gnomAD v4: 16-1447339-C-A
• MyVariant Identifiers: chr16:g.1497340C>A (hg19) ; chr16:g.1447339C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447339C>A , CM000678.2:g.1447339C>A	GRCh38
NC_000016.9:g.1497340C>A , CM000678.1:g.1497340C>A	GRCh37
NC_000016.8:g.1437341C>A	NCBI36
NG_007567.1:g.32746G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2250+53G>T	ENSP00000514703.1:n.2250+53G>T
ENST00000699948.1:c.*563+53G>T	ENSP00000514704.1:n.*563+53G>T
ENST00000382745.9:c.2250+53G>T MANE Select	ENSP00000372193.4:n.2250+53G>T
ENST00000262318.12:c.2182+49G>T	ENSP00000262318.8:n.2182+49G>T
ENST00000382745.8:c.2250+53G>T	ENSP00000372193.4:n.2250+53G>T
ENST00000448525.5:c.2178+53G>T	ENSP00000410907.1:n.2178+53G>T
ENST00000563642.6:n.2319+53G>T
ENST00000565092.6:n.1285+53G>T
ENST00000567836.2:n.491+53G>T
NM_001114331.2:c.2178+53G>T	NP_001107803.1:n.2178+53G>T
NM_001287.5:c.2250+53G>T	NP_001278.1:n.2250+53G>T
XM_011522354.1:c.2076+53G>T	XP_011520656.1:n.2076+53G>T
NM_001287.6:c.2250+53G>T MANE Select	NP_001278.1:n.2250+53G>T
NM_001114331.3:c.2178+53G>T	NP_001107803.1:n.2178+53G>T