Canonical Allele Identifier: CA394192499

Gene: CLCN7

Linked Data

• MyVariant Identifiers: chr16:g.1510868C>T (hg19) ; chr16:g.1460867C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460867C>T , CM000678.2:g.1460867C>T	GRCh38
NC_000016.9:g.1510868C>T , CM000678.1:g.1510868C>T	GRCh37
NC_000016.8:g.1450869C>T	NCBI36
NG_007567.1:g.19218G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699947.1:c.433G>A	ENSP00000514703.1:p.Asp145Asn
ENST00000699948.1:c.433G>A	ENSP00000514704.1:p.Asp145Asn
ENST00000699950.1:n.385G>A
ENST00000382745.9:c.433G>A MANE Select	ENSP00000372193.4:p.Asp145Asn
ENST00000262318.12:c.361G>A	ENSP00000262318.8:p.Asp121Asn
ENST00000382745.8:c.433G>A	ENSP00000372193.4:p.Asp145Asn
ENST00000448525.5:c.361G>A	ENSP00000410907.1:p.Asp121Asn
ENST00000561665.5:n.463G>A
ENST00000564568.1:c.328G>A	ENSP00000454845.1:p.Asp110Asn
ENST00000567139.1:n.484G>A
ENST00000569851.6:c.259G>A	ENSP00000461009.1:p.Asp87Asn
NM_001114331.2:c.361G>A	NP_001107803.1:p.Asp121Asn
NM_001287.5:c.433G>A	NP_001278.1:p.Asp145Asn
XM_011522354.1:c.259G>A	XP_011520656.1:p.Asp87Asn
NM_001287.6:c.433G>A MANE Select	NP_001278.1:p.Asp145Asn
NM_001114331.3:c.361G>A	NP_001107803.1:p.Asp121Asn