Canonical Allele Identifier: CA492917035

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1449310-G-A
• MyVariant Identifiers: chr16:g.1499311G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1449310G>A , CM000678.2:g.1449310G>A	GRCh38
NC_000016.9:g.1499311G>A , CM000678.1:g.1499311G>A	GRCh37
NC_000016.8:g.1439312G>A	NCBI36
NG_007567.1:g.30775C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.1635C>T	ENSP00000514703.1:p.Gly545=
ENST00000699948.1:c.1624-217C>T	ENSP00000514704.1:n.1624-217C>T
ENST00000382745.9:c.1635C>T MANE Select	ENSP00000372193.4:p.Gly545=
ENST00000262318.12:c.1563C>T	ENSP00000262318.8:p.Gly521=
ENST00000382745.8:c.1635C>T	ENSP00000372193.4:p.Gly545=
ENST00000448525.5:c.1563C>T	ENSP00000410907.1:p.Gly521=
ENST00000563642.6:n.1704C>T
ENST00000565092.6:n.488C>T
NM_001114331.2:c.1563C>T	NP_001107803.1:p.Gly521=
NM_001287.5:c.1635C>T	NP_001278.1:p.Gly545=
XM_011522354.1:c.1461C>T	XP_011520656.1:p.Gly487=
NM_001287.6:c.1635C>T MANE Select	NP_001278.1:p.Gly545=
NM_001114331.3:c.1563C>T	NP_001107803.1:p.Gly521=