Canonical Allele Identifier: CA492916596

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1447461-G-T
• MyVariant Identifiers: chr16:g.1497462G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447461G>T , CM000678.2:g.1447461G>T	GRCh38
NC_000016.9:g.1497462G>T , CM000678.1:g.1497462G>T	GRCh37
NC_000016.8:g.1437463G>T	NCBI36
NG_007567.1:g.32624C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2181C>A	ENSP00000514703.1:p.Ser727=
ENST00000699948.1:c.*494C>A	ENSP00000514704.1:n.*494C>A
ENST00000382745.9:c.2181C>A MANE Select	ENSP00000372193.4:p.Ser727=
ENST00000262318.12:c.2109C>A	ENSP00000262318.8:p.Ser703=
ENST00000382745.8:c.2181C>A	ENSP00000372193.4:p.Ser727=
ENST00000448525.5:c.2109C>A	ENSP00000410907.1:p.Ser703=
ENST00000563642.6:n.2250C>A
ENST00000565092.6:n.1216C>A
ENST00000567836.2:n.422C>A
NM_001114331.2:c.2109C>A	NP_001107803.1:p.Ser703=
NM_001287.5:c.2181C>A	NP_001278.1:p.Ser727=
XM_011522354.1:c.2007C>A	XP_011520656.1:p.Ser669=
NM_001287.6:c.2181C>A MANE Select	NP_001278.1:p.Ser727=
NM_001114331.3:c.2109C>A	NP_001107803.1:p.Ser703=