Canonical Allele Identifier: CA718309687

Gene: CLCN7

Linked Data

• dbSNP Id: rs1285182506
• gnomAD v3: 16-1449109-T-C
• gnomAD v4: 16-1449109-T-C
• MyVariant Identifiers: chr16:g.1499110T>C (hg19) ; chr16:g.1449109T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1449109T>C , CM000678.2:g.1449109T>C	GRCh38
NC_000016.9:g.1499110T>C , CM000678.1:g.1499110T>C	GRCh37
NC_000016.8:g.1439111T>C	NCBI36
NG_007567.1:g.30976A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.1670-16A>G	ENSP00000514703.1:n.1670-16A>G
ENST00000699948.1:c.1624-16A>G	ENSP00000514704.1:n.1624-16A>G
ENST00000382745.9:c.1670-16A>G MANE Select	ENSP00000372193.4:n.1670-16A>G
ENST00000262318.12:c.1598-16A>G	ENSP00000262318.8:n.1598-16A>G
ENST00000382745.8:c.1670-16A>G	ENSP00000372193.4:n.1670-16A>G
ENST00000448525.5:c.1598-16A>G	ENSP00000410907.1:n.1598-16A>G
ENST00000563642.6:n.1739-16A>G
ENST00000565092.6:n.689A>G
ENST00000567789.1:n.155A>G
NM_001114331.2:c.1598-16A>G	NP_001107803.1:n.1598-16A>G
NM_001287.5:c.1670-16A>G	NP_001278.1:n.1670-16A>G
XM_011522354.1:c.1496-16A>G	XP_011520656.1:n.1496-16A>G
NM_001287.6:c.1670-16A>G MANE Select	NP_001278.1:n.1670-16A>G
NM_001114331.3:c.1598-16A>G	NP_001107803.1:n.1598-16A>G