Canonical Allele Identifier: CA394190010

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1455758G>C , CM000678.2:g.1455758G>C	GRCh38
NC_000016.9:g.1505759G>C , CM000678.1:g.1505759G>C	GRCh37
NC_000016.8:g.1445760G>C	NCBI36
NG_007567.1:g.24327C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001287.6:c.954C>G MANE Select	NP_001278.1:p.Phe318Leu
ENST00000382745.9:c.954C>G MANE Select	ENSP00000372193.4:p.Phe318Leu
NM_001114331.2:c.882C>G	NP_001107803.1:p.Phe294Leu
NM_001114331.3:c.882C>G	NP_001107803.1:p.Phe294Leu
NM_001287.5:c.954C>G	NP_001278.1:p.Phe318Leu
ENST00000262318.12:c.882C>G	ENSP00000262318.8:p.Phe294Leu
ENST00000382745.8:c.954C>G	ENSP00000372193.4:p.Phe318Leu
ENST00000448525.5:c.882C>G	ENSP00000410907.1:p.Phe294Leu
ENST00000563822.1:n.585C>G
ENST00000699947.1:c.954C>G	ENSP00000514703.1:p.Phe318Leu
ENST00000699948.1:c.954C>G	ENSP00000514704.1:p.Phe318Leu
ENST00000699950.1:n.906C>G
XM_011522354.1:c.780C>G	XP_011520656.1:p.Phe260Leu