Canonical Allele Identifier: CA492924373

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1460946-G-A
• MyVariant Identifiers: chr16:g.1510947G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460946G>A , CM000678.2:g.1460946G>A	GRCh38
NC_000016.9:g.1510947G>A , CM000678.1:g.1510947G>A	GRCh37
NC_000016.8:g.1450948G>A	NCBI36
NG_007567.1:g.19139C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.354C>T	ENSP00000514703.1:p.Ala118=
ENST00000699948.1:c.354C>T	ENSP00000514704.1:p.Ala118=
ENST00000699950.1:n.306C>T
ENST00000382745.9:c.354C>T MANE Select	ENSP00000372193.4:p.Ala118=
ENST00000262318.12:c.282C>T	ENSP00000262318.8:p.Ala94=
ENST00000382745.8:c.354C>T	ENSP00000372193.4:p.Ala118=
ENST00000448525.5:c.282C>T	ENSP00000410907.1:p.Ala94=
ENST00000561665.5:n.384C>T
ENST00000564568.1:c.249C>T	ENSP00000454845.1:p.Ala83=
ENST00000567139.1:n.405C>T
ENST00000569851.6:c.180C>T	ENSP00000461009.1:p.Ala60=
NM_001114331.2:c.282C>T	NP_001107803.1:p.Ala94=
NM_001287.5:c.354C>T	NP_001278.1:p.Ala118=
XM_011522354.1:c.180C>T	XP_011520656.1:p.Ala60=
NM_001287.6:c.354C>T MANE Select	NP_001278.1:p.Ala118=
NM_001114331.3:c.282C>T	NP_001107803.1:p.Ala94=