Canonical Allele Identifier: CA394185147

Gene: CLCN7

Linked Data

• dbSNP Id: rs1159277558
• gnomAD v2: 16-1497023-A-G
• gnomAD v4: 16-1447022-A-G
• MyVariant Identifiers: chr16:g.1497023A>G (hg19) ; chr16:g.1447022A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447022A>G , CM000678.2:g.1447022A>G	GRCh38
NC_000016.9:g.1497023A>G , CM000678.1:g.1497023A>G	GRCh37
NC_000016.8:g.1437024A>G	NCBI36
NG_007567.1:g.33063T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2315T>C	ENSP00000514703.1:p.Val772Ala
ENST00000699948.1:c.*628T>C	ENSP00000514704.1:n.*628T>C
ENST00000382745.9:c.2315T>C MANE Select	ENSP00000372193.4:p.Val772Ala
ENST00000262318.12:c.2244T>C	ENSP00000262318.8:p.Gly748=
ENST00000382745.8:c.2315T>C	ENSP00000372193.4:p.Val772Ala
ENST00000448525.5:c.2243T>C	ENSP00000410907.1:p.Val748Ala
ENST00000563642.6:n.2384T>C
ENST00000565092.6:n.1350T>C
ENST00000567836.2:n.556T>C
NM_001114331.2:c.2243T>C	NP_001107803.1:p.Val748Ala
NM_001287.5:c.2315T>C	NP_001278.1:p.Val772Ala
XM_011522354.1:c.2141T>C	XP_011520656.1:p.Val714Ala
NM_001287.6:c.2315T>C MANE Select	NP_001278.1:p.Val772Ala
NM_001114331.3:c.2243T>C	NP_001107803.1:p.Val748Ala