Canonical Allele Identifier: CA394192336

Gene: CLCN7

Linked Data

• MyVariant Identifiers: chr16:g.1510820C>G (hg19) ; chr16:g.1460819C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460819C>G , CM000678.2:g.1460819C>G	GRCh38
NC_000016.9:g.1510820C>G , CM000678.1:g.1510820C>G	GRCh37
NC_000016.8:g.1450821C>G	NCBI36
NG_007567.1:g.19266G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.481G>C	ENSP00000514703.1:p.Gly161Arg
ENST00000699948.1:c.481G>C	ENSP00000514704.1:p.Gly161Arg
ENST00000699950.1:n.433G>C
ENST00000382745.9:c.481G>C MANE Select	ENSP00000372193.4:p.Gly161Arg
ENST00000262318.12:c.409G>C	ENSP00000262318.8:p.Gly137Arg
ENST00000382745.8:c.481G>C	ENSP00000372193.4:p.Gly161Arg
ENST00000448525.5:c.409G>C	ENSP00000410907.1:p.Gly137Arg
ENST00000561665.5:n.511G>C
ENST00000567139.1:n.532G>C
ENST00000569851.6:c.307G>C	ENSP00000461009.1:p.Gly103Arg
NM_001114331.2:c.409G>C	NP_001107803.1:p.Gly137Arg
NM_001287.5:c.481G>C	NP_001278.1:p.Gly161Arg
XM_011522354.1:c.307G>C	XP_011520656.1:p.Gly103Arg
NM_001287.6:c.481G>C MANE Select	NP_001278.1:p.Gly161Arg
NM_001114331.3:c.409G>C	NP_001107803.1:p.Gly137Arg