Canonical Allele Identifier: CA7810590

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1457355C>T , CM000678.2:g.1457355C>T	GRCh38
NC_000016.9:g.1507356C>T , CM000678.1:g.1507356C>T	GRCh37
NC_000016.8:g.1447357C>T	NCBI36
NG_007567.1:g.22730G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001287.6:c.739-18G>A MANE Select	NP_001278.1:n.739-18G>A
ENST00000382745.9:c.739-18G>A MANE Select	ENSP00000372193.4:n.739-18G>A
NM_001114331.2:c.667-18G>A	NP_001107803.1:n.667-18G>A
NM_001114331.3:c.667-18G>A	NP_001107803.1:n.667-18G>A
NM_001287.5:c.739-18G>A	NP_001278.1:n.739-18G>A
ENST00000262318.12:c.667-18G>A	ENSP00000262318.8:n.667-18G>A
ENST00000382745.8:c.739-18G>A	ENSP00000372193.4:n.739-18G>A
ENST00000448525.5:c.667-18G>A	ENSP00000410907.1:n.667-18G>A
ENST00000563822.1:n.370-18G>A
ENST00000564968.1:n.626G>A
ENST00000569851.6:c.565-18G>A	ENSP00000461009.1:n.565-18G>A
ENST00000699947.1:c.739-18G>A	ENSP00000514703.1:n.739-18G>A
ENST00000699948.1:c.739-18G>A	ENSP00000514704.1:n.739-18G>A
ENST00000699950.1:n.691-18G>A
XM_011522354.1:c.565-18G>A	XP_011520656.1:n.565-18G>A