Canonical Allele Identifier: CA492916662

Gene: CLCN7

Linked Data

• MyVariant Identifiers: chr16:g.1497537T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447536T>A , CM000678.2:g.1447536T>A	GRCh38
NC_000016.9:g.1497537T>A , CM000678.1:g.1497537T>A	GRCh37
NC_000016.8:g.1437538T>A	NCBI36
NG_007567.1:g.32549A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2106A>T	ENSP00000514703.1:p.Val702=
ENST00000699948.1:c.*419A>T	ENSP00000514704.1:n.*419A>T
ENST00000382745.9:c.2106A>T MANE Select	ENSP00000372193.4:p.Val702=
ENST00000262318.12:c.2034A>T	ENSP00000262318.8:p.Val678=
ENST00000382745.8:c.2106A>T	ENSP00000372193.4:p.Val702=
ENST00000448525.5:c.2034A>T	ENSP00000410907.1:p.Val678=
ENST00000563642.6:n.2175A>T
ENST00000565092.6:n.1141A>T
ENST00000567836.2:n.347A>T
NM_001114331.2:c.2034A>T	NP_001107803.1:p.Val678=
NM_001287.5:c.2106A>T	NP_001278.1:p.Val702=
XM_011522354.1:c.1932A>T	XP_011520656.1:p.Val644=
NM_001287.6:c.2106A>T MANE Select	NP_001278.1:p.Val702=
NM_001114331.3:c.2034A>T	NP_001107803.1:p.Val678=