Canonical Allele Identifier: CA2805556339

Gene: CLCN7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1461213C>G , CM000678.2:g.1461213C>G	GRCh38
NC_000016.9:g.1511214C>G , CM000678.1:g.1511214C>G	GRCh37
NC_000016.8:g.1451215C>G	NCBI36
NG_007567.1:g.18872G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.351+192G>C	ENSP00000514703.1:n.351+192G>C
ENST00000699948.1:c.351+192G>C	ENSP00000514704.1:n.351+192G>C
ENST00000699950.1:n.303+192G>C
ENST00000382745.9:c.351+192G>C MANE Select	ENSP00000372193.4:n.351+192G>C
ENST00000262318.12:c.279+192G>C	ENSP00000262318.8:n.279+192G>C
ENST00000382745.8:c.351+192G>C	ENSP00000372193.4:n.351+192G>C
ENST00000448525.5:c.279+192G>C	ENSP00000410907.1:n.279+192G>C
ENST00000561665.5:n.381+192G>C
ENST00000564568.1:c.246+192G>C	ENSP00000454845.1:n.246+192G>C
ENST00000567139.1:n.402+192G>C
ENST00000569851.6:c.177+192G>C	ENSP00000461009.1:n.177+192G>C
NM_001114331.2:c.279+192G>C	NP_001107803.1:n.279+192G>C
NM_001287.5:c.351+192G>C	NP_001278.1:n.351+192G>C
XM_011522354.1:c.177+192G>C	XP_011520656.1:n.177+192G>C
NM_001287.6:c.351+192G>C MANE Select	NP_001278.1:n.351+192G>C
NM_001114331.3:c.279+192G>C	NP_001107803.1:n.279+192G>C