Canonical Allele Identifier: CA394192480

Gene: CLCN7

Linked Data

• MyVariant Identifiers: chr16:g.1510864A>T (hg19) ; chr16:g.1460863A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460863A>T , CM000678.2:g.1460863A>T	GRCh38
NC_000016.9:g.1510864A>T , CM000678.1:g.1510864A>T	GRCh37
NC_000016.8:g.1450865A>T	NCBI36
NG_007567.1:g.19222T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699947.1:c.437T>A	ENSP00000514703.1:p.Ile146Asn
ENST00000699948.1:c.437T>A	ENSP00000514704.1:p.Ile146Asn
ENST00000699950.1:n.389T>A
ENST00000382745.9:c.437T>A MANE Select	ENSP00000372193.4:p.Ile146Asn
ENST00000262318.12:c.365T>A	ENSP00000262318.8:p.Ile122Asn
ENST00000382745.8:c.437T>A	ENSP00000372193.4:p.Ile146Asn
ENST00000448525.5:c.365T>A	ENSP00000410907.1:p.Ile122Asn
ENST00000561665.5:n.467T>A
ENST00000564568.1:c.332T>A	ENSP00000454845.1:p.Ile111Asn
ENST00000567139.1:n.488T>A
ENST00000569851.6:c.263T>A	ENSP00000461009.1:p.Ile88Asn
NM_001114331.2:c.365T>A	NP_001107803.1:p.Ile122Asn
NM_001287.5:c.437T>A	NP_001278.1:p.Ile146Asn
XM_011522354.1:c.263T>A	XP_011520656.1:p.Ile88Asn
NM_001287.6:c.437T>A MANE Select	NP_001278.1:p.Ile146Asn
NM_001114331.3:c.365T>A	NP_001107803.1:p.Ile122Asn