Canonical Allele Identifier: CA492917004

Gene: CLCN7

Linked Data

• MyVariant Identifiers: chr16:g.1499278C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1449277C>G , CM000678.2:g.1449277C>G	GRCh38
NC_000016.9:g.1499278C>G , CM000678.1:g.1499278C>G	GRCh37
NC_000016.8:g.1439279C>G	NCBI36
NG_007567.1:g.30808G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.1668G>C	ENSP00000514703.1:p.Leu556=
ENST00000699948.1:c.1624-184G>C	ENSP00000514704.1:n.1624-184G>C
ENST00000382745.9:c.1668G>C MANE Select	ENSP00000372193.4:p.Leu556=
ENST00000262318.12:c.1596G>C	ENSP00000262318.8:p.Leu532=
ENST00000382745.8:c.1668G>C	ENSP00000372193.4:p.Leu556=
ENST00000448525.5:c.1596G>C	ENSP00000410907.1:p.Leu532=
ENST00000563642.6:n.1737G>C
ENST00000565092.6:n.521G>C
NM_001114331.2:c.1596G>C	NP_001107803.1:p.Leu532=
NM_001287.5:c.1668G>C	NP_001278.1:p.Leu556=
XM_011522354.1:c.1494G>C	XP_011520656.1:p.Leu498=
NM_001287.6:c.1668G>C MANE Select	NP_001278.1:p.Leu556=
NM_001114331.3:c.1596G>C	NP_001107803.1:p.Leu532=