Canonical Allele Identifier: CA7809870

Gene: CLCN7

Linked Data

• dbSNP Id: rs756783139
• ExAC: 16:1497098 G / C
• gnomAD v4: 16-1447097-G-C
• MyVariant Identifiers: chr16:g.1497098G>C (hg19) ; chr16:g.1447097G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447097G>C , CM000678.2:g.1447097G>C	GRCh38
NC_000016.9:g.1497098G>C , CM000678.1:g.1497098G>C	GRCh37
NC_000016.8:g.1437099G>C	NCBI36
NG_007567.1:g.32988C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2251-11C>G	ENSP00000514703.1:n.2251-11C>G
ENST00000699948.1:c.*564-11C>G	ENSP00000514704.1:n.*564-11C>G
ENST00000382745.9:c.2251-11C>G MANE Select	ENSP00000372193.4:n.2251-11C>G
ENST00000262318.12:c.2183-14C>G	ENSP00000262318.8:n.2183-14C>G
ENST00000382745.8:c.2251-11C>G	ENSP00000372193.4:n.2251-11C>G
ENST00000448525.5:c.2179-11C>G	ENSP00000410907.1:n.2179-11C>G
ENST00000563642.6:n.2320-11C>G
ENST00000565092.6:n.1286-11C>G
ENST00000567836.2:n.492-11C>G
NM_001114331.2:c.2179-11C>G	NP_001107803.1:n.2179-11C>G
NM_001287.5:c.2251-11C>G	NP_001278.1:n.2251-11C>G
XM_011522354.1:c.2077-11C>G	XP_011520656.1:n.2077-11C>G
NM_001287.6:c.2251-11C>G MANE Select	NP_001278.1:n.2251-11C>G
NM_001114331.3:c.2179-11C>G	NP_001107803.1:n.2179-11C>G