Canonical Allele Identifier: CA2630989340

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1446959-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1446959A>G , CM000678.2:g.1446959A>G	GRCh38
NC_000016.9:g.1496960A>G , CM000678.1:g.1496960A>G	GRCh37
NC_000016.8:g.1436961A>G	NCBI36
NG_007567.1:g.33126T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000699947.1:c.2331+47T>C	ENSP00000514703.1:n.2331+47T>C
ENST00000699948.1:c.*644+47T>C	ENSP00000514704.1:n.*644+47T>C
ENST00000382745.9:c.2331+47T>C MANE Select	ENSP00000372193.4:n.2331+47T>C
ENST00000262318.12:c.2260+47T>C	ENSP00000262318.8:n.2260+47T>C
ENST00000382745.8:c.2331+47T>C	ENSP00000372193.4:n.2331+47T>C
ENST00000448525.5:c.2259+47T>C	ENSP00000410907.1:n.2259+47T>C
ENST00000563642.6:n.2400+47T>C
ENST00000565092.6:n.1366+47T>C
ENST00000567836.2:n.572+47T>C
NM_001114331.2:c.2259+47T>C	NP_001107803.1:n.2259+47T>C
NM_001287.5:c.2331+47T>C	NP_001278.1:n.2331+47T>C
XM_011522354.1:c.2157+47T>C	XP_011520656.1:n.2157+47T>C
NM_001287.6:c.2331+47T>C MANE Select	NP_001278.1:n.2331+47T>C
NM_001114331.3:c.2259+47T>C	NP_001107803.1:n.2259+47T>C