Canonical Allele Identifier: CA492916644

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1447512-G-A
• MyVariant Identifiers: chr16:g.1497513G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447512G>A , CM000678.2:g.1447512G>A	GRCh38
NC_000016.9:g.1497513G>A , CM000678.1:g.1497513G>A	GRCh37
NC_000016.8:g.1437514G>A	NCBI36
NG_007567.1:g.32573C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2130C>T	ENSP00000514703.1:p.Asp710=
ENST00000699948.1:c.*443C>T	ENSP00000514704.1:n.*443C>T
ENST00000382745.9:c.2130C>T MANE Select	ENSP00000372193.4:p.Asp710=
ENST00000262318.12:c.2058C>T	ENSP00000262318.8:p.Asp686=
ENST00000382745.8:c.2130C>T	ENSP00000372193.4:p.Asp710=
ENST00000448525.5:c.2058C>T	ENSP00000410907.1:p.Asp686=
ENST00000563642.6:n.2199C>T
ENST00000565092.6:n.1165C>T
ENST00000567836.2:n.371C>T
NM_001114331.2:c.2058C>T	NP_001107803.1:p.Asp686=
NM_001287.5:c.2130C>T	NP_001278.1:p.Asp710=
XM_011522354.1:c.1956C>T	XP_011520656.1:p.Asp652=
NM_001287.6:c.2130C>T MANE Select	NP_001278.1:p.Asp710=
NM_001114331.3:c.2058C>T	NP_001107803.1:p.Asp686=