Canonical Allele Identifier: CA394185325

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447065A>G , CM000678.2:g.1447065A>G	GRCh38
NC_000016.9:g.1497066A>G , CM000678.1:g.1497066A>G	GRCh37
NC_000016.8:g.1437067A>G	NCBI36
NG_007567.1:g.33020T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001287.6:c.2272T>C MANE Select	NP_001278.1:p.Phe758Leu
ENST00000382745.9:c.2272T>C MANE Select	ENSP00000372193.4:p.Phe758Leu
NM_001114331.2:c.2200T>C	NP_001107803.1:p.Phe734Leu
NM_001114331.3:c.2200T>C	NP_001107803.1:p.Phe734Leu
NM_001287.5:c.2272T>C	NP_001278.1:p.Phe758Leu
ENST00000262318.12:c.2201T>C	ENSP00000262318.8:p.Val734Ala
ENST00000382745.8:c.2272T>C	ENSP00000372193.4:p.Phe758Leu
ENST00000448525.5:c.2200T>C	ENSP00000410907.1:p.Phe734Leu
ENST00000563642.6:n.2341T>C
ENST00000565092.6:n.1307T>C
ENST00000567836.2:n.513T>C
ENST00000699947.1:c.2272T>C	ENSP00000514703.1:p.Phe758Leu
ENST00000699948.1:c.*585T>C	ENSP00000514704.1:n.*585T>C
XM_011522354.1:c.2098T>C	XP_011520656.1:p.Phe700Leu