Canonical Allele Identifier: CA344953

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 65634
• ClinVar RCV Id: RCV000055845 ; RCV000251178 ; RCV000338192 ; RCV001516365 ; RCV002277138
• dbSNP Id: rs12926089
• ExAC: 16:1502857 C / T
• gnomAD v2: 16-1502857-C-T
• gnomAD v3: 16-1452856-C-T
• gnomAD v4: 16-1452856-C-T
• MyVariant Identifiers: chr16:g.1502857C>T (hg19) ; chr16:g.1452856C>T (hg38)
• PubMed: PMID:16234969 ; PMID:20301306

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1452856C>T , CM000678.2:g.1452856C>T	GRCh38
NC_000016.9:g.1502857C>T , CM000678.1:g.1502857C>T	GRCh37
NC_000016.8:g.1442858C>T	NCBI36
NG_007567.1:g.27229G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699947.1:c.1252G>A	ENSP00000514703.1:p.Val418Met
ENST00000699948.1:c.1252G>A	ENSP00000514704.1:p.Val418Met
ENST00000382745.9:c.1252G>A MANE Select	ENSP00000372193.4:p.Val418Met
ENST00000262318.12:c.1180G>A	ENSP00000262318.8:p.Val394Met
ENST00000382745.8:c.1252G>A	ENSP00000372193.4:p.Val418Met
ENST00000448525.5:c.1180G>A	ENSP00000410907.1:p.Val394Met
NM_001114331.2:c.1180G>A	NP_001107803.1:p.Val394Met
NM_001287.5:c.1252G>A	NP_001278.1:p.Val418Met
XM_011522354.1:c.1078G>A	XP_011520656.1:p.Val360Met
NM_001287.6:c.1252G>A MANE Select	NP_001278.1:p.Val418Met
NM_001114331.3:c.1180G>A	NP_001107803.1:p.Val394Met