Canonical Allele Identifier: CA394190018

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1455760A>G , CM000678.2:g.1455760A>G	GRCh38
NC_000016.9:g.1505761A>G , CM000678.1:g.1505761A>G	GRCh37
NC_000016.8:g.1445762A>G	NCBI36
NG_007567.1:g.24325T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001287.6:c.952T>C MANE Select	NP_001278.1:p.Phe318Leu
ENST00000382745.9:c.952T>C MANE Select	ENSP00000372193.4:p.Phe318Leu
NM_001114331.2:c.880T>C	NP_001107803.1:p.Phe294Leu
NM_001114331.3:c.880T>C	NP_001107803.1:p.Phe294Leu
NM_001287.5:c.952T>C	NP_001278.1:p.Phe318Leu
ENST00000262318.12:c.880T>C	ENSP00000262318.8:p.Phe294Leu
ENST00000382745.8:c.952T>C	ENSP00000372193.4:p.Phe318Leu
ENST00000448525.5:c.880T>C	ENSP00000410907.1:p.Phe294Leu
ENST00000563822.1:n.583T>C
ENST00000699947.1:c.952T>C	ENSP00000514703.1:p.Phe318Leu
ENST00000699948.1:c.952T>C	ENSP00000514704.1:p.Phe318Leu
ENST00000699950.1:n.904T>C
XM_011522354.1:c.778T>C	XP_011520656.1:p.Phe260Leu