Canonical Allele Identifier: CA394187031

Gene: CLCN7

Linked Data

• MyVariant Identifiers: chr16:g.1499279A>T (hg19) ; chr16:g.1449278A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1449278A>T , CM000678.2:g.1449278A>T	GRCh38
NC_000016.9:g.1499279A>T , CM000678.1:g.1499279A>T	GRCh37
NC_000016.8:g.1439280A>T	NCBI36
NG_007567.1:g.30807T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.1667T>A	ENSP00000514703.1:p.Leu556Gln
ENST00000699948.1:c.1624-185T>A	ENSP00000514704.1:n.1624-185T>A
ENST00000382745.9:c.1667T>A MANE Select	ENSP00000372193.4:p.Leu556Gln
ENST00000262318.12:c.1595T>A	ENSP00000262318.8:p.Leu532Gln
ENST00000382745.8:c.1667T>A	ENSP00000372193.4:p.Leu556Gln
ENST00000448525.5:c.1595T>A	ENSP00000410907.1:p.Leu532Gln
ENST00000563642.6:n.1736T>A
ENST00000565092.6:n.520T>A
NM_001114331.2:c.1595T>A	NP_001107803.1:p.Leu532Gln
NM_001287.5:c.1667T>A	NP_001278.1:p.Leu556Gln
XM_011522354.1:c.1493T>A	XP_011520656.1:p.Leu498Gln
NM_001287.6:c.1667T>A MANE Select	NP_001278.1:p.Leu556Gln
NM_001114331.3:c.1595T>A	NP_001107803.1:p.Leu532Gln