Canonical Allele Identifier: CA394185795

Gene: CLCN7

Linked Data

• MyVariant Identifiers: chr16:g.1497554A>T (hg19) ; chr16:g.1447553A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447553A>T , CM000678.2:g.1447553A>T	GRCh38
NC_000016.9:g.1497554A>T , CM000678.1:g.1497554A>T	GRCh37
NC_000016.8:g.1437555A>T	NCBI36
NG_007567.1:g.32532T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2089T>A	ENSP00000514703.1:p.Ser697Thr
ENST00000699948.1:c.*402T>A	ENSP00000514704.1:n.*402T>A
ENST00000382745.9:c.2089T>A MANE Select	ENSP00000372193.4:p.Ser697Thr
ENST00000262318.12:c.2017T>A	ENSP00000262318.8:p.Ser673Thr
ENST00000382745.8:c.2089T>A	ENSP00000372193.4:p.Ser697Thr
ENST00000448525.5:c.2017T>A	ENSP00000410907.1:p.Ser673Thr
ENST00000563642.6:n.2158T>A
ENST00000565092.6:n.1124T>A
ENST00000567836.2:n.330T>A
NM_001114331.2:c.2017T>A	NP_001107803.1:p.Ser673Thr
NM_001287.5:c.2089T>A	NP_001278.1:p.Ser697Thr
XM_011522354.1:c.1915T>A	XP_011520656.1:p.Ser639Thr
NM_001287.6:c.2089T>A MANE Select	NP_001278.1:p.Ser697Thr
NM_001114331.3:c.2017T>A	NP_001107803.1:p.Ser673Thr