Canonical Allele Identifier: CA973717468

Gene: CLCN7

Linked Data

• dbSNP Id: rs2038928930
• gnomAD v3: 16-1461086-G-T
• gnomAD v4: 16-1461086-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1461086G>T , CM000678.2:g.1461086G>T	GRCh38
NC_000016.9:g.1511087G>T , CM000678.1:g.1511087G>T	GRCh37
NC_000016.8:g.1451088G>T	NCBI36
NG_007567.1:g.18999C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.352-138C>A	ENSP00000514703.1:n.352-138C>A
ENST00000699948.1:c.352-138C>A	ENSP00000514704.1:n.352-138C>A
ENST00000699950.1:n.304-138C>A
ENST00000382745.9:c.352-138C>A MANE Select	ENSP00000372193.4:n.352-138C>A
ENST00000262318.12:c.280-138C>A	ENSP00000262318.8:n.280-138C>A
ENST00000382745.8:c.352-138C>A	ENSP00000372193.4:n.352-138C>A
ENST00000448525.5:c.280-138C>A	ENSP00000410907.1:n.280-138C>A
ENST00000561665.5:n.382-138C>A
ENST00000564568.1:c.247-138C>A	ENSP00000454845.1:n.247-138C>A
ENST00000567139.1:n.403-138C>A
ENST00000569851.6:c.178-138C>A	ENSP00000461009.1:n.178-138C>A
NM_001114331.2:c.280-138C>A	NP_001107803.1:n.280-138C>A
NM_001287.5:c.352-138C>A	NP_001278.1:n.352-138C>A
XM_011522354.1:c.178-138C>A	XP_011520656.1:n.178-138C>A
NM_001287.6:c.352-138C>A MANE Select	NP_001278.1:n.352-138C>A
NM_001114331.3:c.280-138C>A	NP_001107803.1:n.280-138C>A