Canonical Allele Identifier: CA7810110

Gene: CLCN7

Linked Data

• dbSNP Id: rs780121333
• ExAC: 16:1499117 C / T
• gnomAD v2: 16-1499117-C-T
• gnomAD v4: 16-1449116-C-T
• MyVariant Identifiers: chr16:g.1499117C>T (hg19) ; chr16:g.1449116C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1449116C>T , CM000678.2:g.1449116C>T	GRCh38
NC_000016.9:g.1499117C>T , CM000678.1:g.1499117C>T	GRCh37
NC_000016.8:g.1439118C>T	NCBI36
NG_007567.1:g.30969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.1670-23G>A	ENSP00000514703.1:n.1670-23G>A
ENST00000699948.1:c.1624-23G>A	ENSP00000514704.1:n.1624-23G>A
ENST00000382745.9:c.1670-23G>A MANE Select	ENSP00000372193.4:n.1670-23G>A
ENST00000262318.12:c.1598-23G>A	ENSP00000262318.8:n.1598-23G>A
ENST00000382745.8:c.1670-23G>A	ENSP00000372193.4:n.1670-23G>A
ENST00000448525.5:c.1598-23G>A	ENSP00000410907.1:n.1598-23G>A
ENST00000563642.6:n.1739-23G>A
ENST00000565092.6:n.682G>A
ENST00000567789.1:n.148G>A
NM_001114331.2:c.1598-23G>A	NP_001107803.1:n.1598-23G>A
NM_001287.5:c.1670-23G>A	NP_001278.1:n.1670-23G>A
XM_011522354.1:c.1496-23G>A	XP_011520656.1:n.1496-23G>A
NM_001287.6:c.1670-23G>A MANE Select	NP_001278.1:n.1670-23G>A
NM_001114331.3:c.1598-23G>A	NP_001107803.1:n.1598-23G>A