Canonical Allele Identifier: CA7809855

Gene: CLCN7

Linked Data

• dbSNP Id: rs768989814
• ExAC: 16:1497026 A / G
• gnomAD v2: 16-1497026-A-G
• gnomAD v4: 16-1447025-A-G
• MyVariant Identifiers: chr16:g.1497026A>G (hg19) ; chr16:g.1447025A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447025A>G , CM000678.2:g.1447025A>G	GRCh38
NC_000016.9:g.1497026A>G , CM000678.1:g.1497026A>G	GRCh37
NC_000016.8:g.1437027A>G	NCBI36
NG_007567.1:g.33060T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2312T>C	ENSP00000514703.1:p.Val771Ala
ENST00000699948.1:c.*625T>C	ENSP00000514704.1:n.*625T>C
ENST00000382745.9:c.2312T>C MANE Select	ENSP00000372193.4:p.Val771Ala
ENST00000262318.12:c.2241T>C	ENSP00000262318.8:p.Gly747=
ENST00000382745.8:c.2312T>C	ENSP00000372193.4:p.Val771Ala
ENST00000448525.5:c.2240T>C	ENSP00000410907.1:p.Val747Ala
ENST00000563642.6:n.2381T>C
ENST00000565092.6:n.1347T>C
ENST00000567836.2:n.553T>C
NM_001114331.2:c.2240T>C	NP_001107803.1:p.Val747Ala
NM_001287.5:c.2312T>C	NP_001278.1:p.Val771Ala
XM_011522354.1:c.2138T>C	XP_011520656.1:p.Val713Ala
NM_001287.6:c.2312T>C MANE Select	NP_001278.1:p.Val771Ala
NM_001114331.3:c.2240T>C	NP_001107803.1:p.Val747Ala