Canonical Allele Identifier: CA2630988624

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1449120-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1449120A>C , CM000678.2:g.1449120A>C	GRCh38
NC_000016.9:g.1499121A>C , CM000678.1:g.1499121A>C	GRCh37
NC_000016.8:g.1439122A>C	NCBI36
NG_007567.1:g.30965T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.1670-27T>G	ENSP00000514703.1:n.1670-27T>G
ENST00000699948.1:c.1624-27T>G	ENSP00000514704.1:n.1624-27T>G
ENST00000382745.9:c.1670-27T>G MANE Select	ENSP00000372193.4:n.1670-27T>G
ENST00000262318.12:c.1598-27T>G	ENSP00000262318.8:n.1598-27T>G
ENST00000382745.8:c.1670-27T>G	ENSP00000372193.4:n.1670-27T>G
ENST00000448525.5:c.1598-27T>G	ENSP00000410907.1:n.1598-27T>G
ENST00000563642.6:n.1739-27T>G
ENST00000565092.6:n.678T>G
ENST00000567789.1:n.144T>G
NM_001114331.2:c.1598-27T>G	NP_001107803.1:n.1598-27T>G
NM_001287.5:c.1670-27T>G	NP_001278.1:n.1670-27T>G
XM_011522354.1:c.1496-27T>G	XP_011520656.1:n.1496-27T>G
NM_001287.6:c.1670-27T>G MANE Select	NP_001278.1:n.1670-27T>G
NM_001114331.3:c.1598-27T>G	NP_001107803.1:n.1598-27T>G