Canonical Allele Identifier: CA394185114

Gene: CLCN7

Linked Data

• dbSNP Id: rs2038658490
• gnomAD v4: 16-1447017-T-C
• MyVariant Identifiers: chr16:g.1497018T>C (hg19) ; chr16:g.1447017T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447017T>C , CM000678.2:g.1447017T>C	GRCh38
NC_000016.9:g.1497018T>C , CM000678.1:g.1497018T>C	GRCh37
NC_000016.8:g.1437019T>C	NCBI36
NG_007567.1:g.33068A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2320A>G	ENSP00000514703.1:p.Asn774Asp
ENST00000699948.1:c.*633A>G	ENSP00000514704.1:n.*633A>G
ENST00000382745.9:c.2320A>G MANE Select	ENSP00000372193.4:p.Asn774Asp
ENST00000262318.12:c.2249A>G	ENSP00000262318.8:p.Gln750Arg
ENST00000382745.8:c.2320A>G	ENSP00000372193.4:p.Asn774Asp
ENST00000448525.5:c.2248A>G	ENSP00000410907.1:p.Asn750Asp
ENST00000563642.6:n.2389A>G
ENST00000565092.6:n.1355A>G
ENST00000567836.2:n.561A>G
NM_001114331.2:c.2248A>G	NP_001107803.1:p.Asn750Asp
NM_001287.5:c.2320A>G	NP_001278.1:p.Asn774Asp
XM_011522354.1:c.2146A>G	XP_011520656.1:p.Asn716Asp
NM_001287.6:c.2320A>G MANE Select	NP_001278.1:p.Asn774Asp
NM_001114331.3:c.2248A>G	NP_001107803.1:p.Asn750Asp