Canonical Allele Identifier: CA394191921

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1459139-C-G
• MyVariant Identifiers: chr16:g.1509140C>G (hg19) ; chr16:g.1459139C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1459139C>G , CM000678.2:g.1459139C>G	GRCh38
NC_000016.9:g.1509140C>G , CM000678.1:g.1509140C>G	GRCh37
NC_000016.8:g.1449141C>G	NCBI36
NG_007567.1:g.20946G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.643G>C	ENSP00000514703.1:p.Gly215Arg
ENST00000699948.1:c.643G>C	ENSP00000514704.1:p.Gly215Arg
ENST00000699950.1:n.595G>C
ENST00000382745.9:c.643G>C MANE Select	ENSP00000372193.4:p.Gly215Arg
ENST00000262318.12:c.571G>C	ENSP00000262318.8:p.Gly191Arg
ENST00000382745.8:c.643G>C	ENSP00000372193.4:p.Gly215Arg
ENST00000448525.5:c.571G>C	ENSP00000410907.1:p.Gly191Arg
ENST00000563822.1:n.274G>C
ENST00000564968.1:n.192G>C
ENST00000569851.6:c.469G>C	ENSP00000461009.1:p.Gly157Arg
NM_001114331.2:c.571G>C	NP_001107803.1:p.Gly191Arg
NM_001287.5:c.643G>C	NP_001278.1:p.Gly215Arg
XM_011522354.1:c.469G>C	XP_011520656.1:p.Gly157Arg
NM_001287.6:c.643G>C MANE Select	NP_001278.1:p.Gly215Arg
NM_001114331.3:c.571G>C	NP_001107803.1:p.Gly191Arg