Canonical Allele Identifier: CA492924321

Gene: CLCN7

Linked Data

• MyVariant Identifiers: chr16:g.1510896G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1460895G>A , CM000678.2:g.1460895G>A	GRCh38
NC_000016.9:g.1510896G>A , CM000678.1:g.1510896G>A	GRCh37
NC_000016.8:g.1450897G>A	NCBI36
NG_007567.1:g.19190C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.405C>T	ENSP00000514703.1:p.Ile135=
ENST00000699948.1:c.405C>T	ENSP00000514704.1:p.Ile135=
ENST00000699950.1:n.357C>T
ENST00000382745.9:c.405C>T MANE Select	ENSP00000372193.4:p.Ile135=
ENST00000262318.12:c.333C>T	ENSP00000262318.8:p.Ile111=
ENST00000382745.8:c.405C>T	ENSP00000372193.4:p.Ile135=
ENST00000448525.5:c.333C>T	ENSP00000410907.1:p.Ile111=
ENST00000561665.5:n.435C>T
ENST00000564568.1:c.300C>T	ENSP00000454845.1:p.Ile100=
ENST00000567139.1:n.456C>T
ENST00000569851.6:c.231C>T	ENSP00000461009.1:p.Ile77=
NM_001114331.2:c.333C>T	NP_001107803.1:p.Ile111=
NM_001287.5:c.405C>T	NP_001278.1:p.Ile135=
XM_011522354.1:c.231C>T	XP_011520656.1:p.Ile77=
NM_001287.6:c.405C>T MANE Select	NP_001278.1:p.Ile135=
NM_001114331.3:c.333C>T	NP_001107803.1:p.Ile111=