Canonical Allele Identifier: CA7810793

Gene: CLCN7

Linked Data

• dbSNP Id: rs746088004
• ExAC: 16:1510871 T / C
• gnomAD v2: 16-1510871-T-C
• gnomAD v3: 16-1460870-T-C
• gnomAD v4: 16-1460870-T-C
• MyVariant Identifiers: chr16:g.1510871T>C (hg19) ; chr16:g.1460870T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460870T>C , CM000678.2:g.1460870T>C	GRCh38
NC_000016.9:g.1510871T>C , CM000678.1:g.1510871T>C	GRCh37
NC_000016.8:g.1450872T>C	NCBI36
NG_007567.1:g.19215A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000699947.1:c.430A>G	ENSP00000514703.1:p.Ile144Val
ENST00000699948.1:c.430A>G	ENSP00000514704.1:p.Ile144Val
ENST00000699950.1:n.382A>G
ENST00000382745.9:c.430A>G MANE Select	ENSP00000372193.4:p.Ile144Val
ENST00000262318.12:c.358A>G	ENSP00000262318.8:p.Ile120Val
ENST00000382745.8:c.430A>G	ENSP00000372193.4:p.Ile144Val
ENST00000448525.5:c.358A>G	ENSP00000410907.1:p.Ile120Val
ENST00000561665.5:n.460A>G
ENST00000564568.1:c.325A>G	ENSP00000454845.1:p.Ile109Val
ENST00000567139.1:n.481A>G
ENST00000569851.6:c.256A>G	ENSP00000461009.1:p.Ile86Val
NM_001114331.2:c.358A>G	NP_001107803.1:p.Ile120Val
NM_001287.5:c.430A>G	NP_001278.1:p.Ile144Val
XM_011522354.1:c.256A>G	XP_011520656.1:p.Ile86Val
NM_001287.6:c.430A>G MANE Select	NP_001278.1:p.Ile144Val
NM_001114331.3:c.358A>G	NP_001107803.1:p.Ile120Val