Canonical Allele Identifier: CA492916619

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 2118176
• ClinVar RCV Id: RCV003039478
• MyVariant Identifiers: chr16:g.1497483G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447482G>C , CM000678.2:g.1447482G>C	GRCh38
NC_000016.9:g.1497483G>C , CM000678.1:g.1497483G>C	GRCh37
NC_000016.8:g.1437484G>C	NCBI36
NG_007567.1:g.32603C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2160C>G	ENSP00000514703.1:p.Pro720=
ENST00000699948.1:c.*473C>G	ENSP00000514704.1:n.*473C>G
ENST00000382745.9:c.2160C>G MANE Select	ENSP00000372193.4:p.Pro720=
ENST00000262318.12:c.2088C>G	ENSP00000262318.8:p.Pro696=
ENST00000382745.8:c.2160C>G	ENSP00000372193.4:p.Pro720=
ENST00000448525.5:c.2088C>G	ENSP00000410907.1:p.Pro696=
ENST00000563642.6:n.2229C>G
ENST00000565092.6:n.1195C>G
ENST00000567836.2:n.401C>G
NM_001114331.2:c.2088C>G	NP_001107803.1:p.Pro696=
NM_001287.5:c.2160C>G	NP_001278.1:p.Pro720=
XM_011522354.1:c.1986C>G	XP_011520656.1:p.Pro662=
NM_001287.6:c.2160C>G MANE Select	NP_001278.1:p.Pro720=
NM_001114331.3:c.2088C>G	NP_001107803.1:p.Pro696=