Canonical Allele Identifier: CA394185420

Gene: CLCN7

Linked Data

• gnomAD v3: 16-1447085-T-A
• gnomAD v4: 16-1447085-T-A
• MyVariant Identifiers: chr16:g.1497086T>A (hg19) ; chr16:g.1447085T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447085T>A , CM000678.2:g.1447085T>A	GRCh38
NC_000016.9:g.1497086T>A , CM000678.1:g.1497086T>A	GRCh37
NC_000016.8:g.1437087T>A	NCBI36
NG_007567.1:g.33000A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2252A>T	ENSP00000514703.1:p.Glu751Val
ENST00000699948.1:c.*565A>T	ENSP00000514704.1:n.*565A>T
ENST00000382745.9:c.2252A>T MANE Select	ENSP00000372193.4:p.Glu751Val
ENST00000262318.12:c.2183-2A>T	ENSP00000262318.8:n.2183-2A>T
ENST00000382745.8:c.2252A>T	ENSP00000372193.4:p.Glu751Val
ENST00000448525.5:c.2180A>T	ENSP00000410907.1:p.Glu727Val
ENST00000563642.6:n.2321A>T
ENST00000565092.6:n.1287A>T
ENST00000567836.2:n.493A>T
NM_001114331.2:c.2180A>T	NP_001107803.1:p.Glu727Val
NM_001287.5:c.2252A>T	NP_001278.1:p.Glu751Val
XM_011522354.1:c.2078A>T	XP_011520656.1:p.Glu693Val
NM_001287.6:c.2252A>T MANE Select	NP_001278.1:p.Glu751Val
NM_001114331.3:c.2180A>T	NP_001107803.1:p.Glu727Val