Canonical Allele Identifier: CA394185725

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1447517-T-A
• MyVariant Identifiers: chr16:g.1497518T>A (hg19) ; chr16:g.1447517T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447517T>A , CM000678.2:g.1447517T>A	GRCh38
NC_000016.9:g.1497518T>A , CM000678.1:g.1497518T>A	GRCh37
NC_000016.8:g.1437519T>A	NCBI36
NG_007567.1:g.32568A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2125A>T	ENSP00000514703.1:p.Lys709Ter
ENST00000699948.1:c.*438A>T	ENSP00000514704.1:n.*438A>T
ENST00000382745.9:c.2125A>T MANE Select	ENSP00000372193.4:p.Lys709Ter
ENST00000262318.12:c.2053A>T	ENSP00000262318.8:p.Lys685Ter
ENST00000382745.8:c.2125A>T	ENSP00000372193.4:p.Lys709Ter
ENST00000448525.5:c.2053A>T	ENSP00000410907.1:p.Lys685Ter
ENST00000563642.6:n.2194A>T
ENST00000565092.6:n.1160A>T
ENST00000567836.2:n.366A>T
NM_001114331.2:c.2053A>T	NP_001107803.1:p.Lys685Ter
NM_001287.5:c.2125A>T	NP_001278.1:p.Lys709Ter
XM_011522354.1:c.1951A>T	XP_011520656.1:p.Lys651Ter
NM_001287.6:c.2125A>T MANE Select	NP_001278.1:p.Lys709Ter
NM_001114331.3:c.2053A>T	NP_001107803.1:p.Lys685Ter