Canonical Allele Identifier: CA7810129

Gene: CLCN7

Linked Data

• dbSNP Id: rs755146243
• ExAC: 16:1499254 A / G
• gnomAD v2: 16-1499254-A-G
• gnomAD v3: 16-1449253-A-G
• gnomAD v4: 16-1449253-A-G
• MyVariant Identifiers: chr16:g.1499254A>G (hg19) ; chr16:g.1449253A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1449253A>G , CM000678.2:g.1449253A>G	GRCh38
NC_000016.9:g.1499254A>G , CM000678.1:g.1499254A>G	GRCh37
NC_000016.8:g.1439255A>G	NCBI36
NG_007567.1:g.30832T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.1669+23T>C	ENSP00000514703.1:n.1669+23T>C
ENST00000699948.1:c.1624-160T>C	ENSP00000514704.1:n.1624-160T>C
ENST00000382745.9:c.1669+23T>C MANE Select	ENSP00000372193.4:n.1669+23T>C
ENST00000262318.12:c.1597+23T>C	ENSP00000262318.8:n.1597+23T>C
ENST00000382745.8:c.1669+23T>C	ENSP00000372193.4:n.1669+23T>C
ENST00000448525.5:c.1597+23T>C	ENSP00000410907.1:n.1597+23T>C
ENST00000563642.6:n.1738+23T>C
ENST00000565092.6:n.545T>C
ENST00000567789.1:n.11T>C
NM_001114331.2:c.1597+23T>C	NP_001107803.1:n.1597+23T>C
NM_001287.5:c.1669+23T>C	NP_001278.1:n.1669+23T>C
XM_011522354.1:c.1495+23T>C	XP_011520656.1:n.1495+23T>C
NM_001287.6:c.1669+23T>C MANE Select	NP_001278.1:n.1669+23T>C
NM_001114331.3:c.1597+23T>C	NP_001107803.1:n.1597+23T>C