Canonical Allele Identifier: CA276669540

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 2969043
• ClinVar RCV Id: RCV003826713
• dbSNP Id: rs1018277509
• gnomAD v2: 16-1499114-C-A
• gnomAD v4: 16-1449113-C-A
• MyVariant Identifiers: chr16:g.1499114C>A (hg19) ; chr16:g.1449113C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1449113C>A , CM000678.2:g.1449113C>A	GRCh38
NC_000016.9:g.1499114C>A , CM000678.1:g.1499114C>A	GRCh37
NC_000016.8:g.1439115C>A	NCBI36
NG_007567.1:g.30972G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.1670-20G>T	ENSP00000514703.1:n.1670-20G>T
ENST00000699948.1:c.1624-20G>T	ENSP00000514704.1:n.1624-20G>T
ENST00000382745.9:c.1670-20G>T MANE Select	ENSP00000372193.4:n.1670-20G>T
ENST00000262318.12:c.1598-20G>T	ENSP00000262318.8:n.1598-20G>T
ENST00000382745.8:c.1670-20G>T	ENSP00000372193.4:n.1670-20G>T
ENST00000448525.5:c.1598-20G>T	ENSP00000410907.1:n.1598-20G>T
ENST00000563642.6:n.1739-20G>T
ENST00000565092.6:n.685G>T
ENST00000567789.1:n.151G>T
NM_001114331.2:c.1598-20G>T	NP_001107803.1:n.1598-20G>T
NM_001287.5:c.1670-20G>T	NP_001278.1:n.1670-20G>T
XM_011522354.1:c.1496-20G>T	XP_011520656.1:n.1496-20G>T
NM_001287.6:c.1670-20G>T MANE Select	NP_001278.1:n.1670-20G>T
NM_001114331.3:c.1598-20G>T	NP_001107803.1:n.1598-20G>T