Canonical Allele Identifier: CA394187470

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1450538G>A , CM000678.2:g.1450538G>A	GRCh38
NC_000016.9:g.1500539G>A , CM000678.1:g.1500539G>A	GRCh37
NC_000016.8:g.1440540G>A	NCBI36
NG_007567.1:g.29547C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001287.6:c.1576C>T MANE Select	NP_001278.1:p.Arg526Trp
ENST00000382745.9:c.1576C>T MANE Select	ENSP00000372193.4:p.Arg526Trp
NM_001114331.2:c.1504C>T	NP_001107803.1:p.Arg502Trp
NM_001114331.3:c.1504C>T	NP_001107803.1:p.Arg502Trp
NM_001287.5:c.1576C>T	NP_001278.1:p.Arg526Trp
ENST00000262318.12:c.1504C>T	ENSP00000262318.8:p.Arg502Trp
ENST00000382745.8:c.1576C>T	ENSP00000372193.4:p.Arg526Trp
ENST00000448525.5:c.1504C>T	ENSP00000410907.1:p.Arg502Trp
ENST00000563642.6:n.476C>T
ENST00000699947.1:c.1576C>T	ENSP00000514703.1:p.Arg526Trp
ENST00000699948.1:c.1582C>T	ENSP00000514704.1:p.Arg528Trp
XM_011522354.1:c.1402C>T	XP_011520656.1:p.Arg468Trp