Canonical Allele Identifier: CA394185391

Gene: CLCN7

Linked Data

• MyVariant Identifiers: chr16:g.1497077A>T (hg19) ; chr16:g.1447076A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447076A>T , CM000678.2:g.1447076A>T	GRCh38
NC_000016.9:g.1497077A>T , CM000678.1:g.1497077A>T	GRCh37
NC_000016.8:g.1437078A>T	NCBI36
NG_007567.1:g.33009T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2261T>A	ENSP00000514703.1:p.Leu754His
ENST00000699948.1:c.*574T>A	ENSP00000514704.1:n.*574T>A
ENST00000382745.9:c.2261T>A MANE Select	ENSP00000372193.4:p.Leu754His
ENST00000262318.12:c.2190T>A	ENSP00000262318.8:p.Ala730=
ENST00000382745.8:c.2261T>A	ENSP00000372193.4:p.Leu754His
ENST00000448525.5:c.2189T>A	ENSP00000410907.1:p.Leu730His
ENST00000563642.6:n.2330T>A
ENST00000565092.6:n.1296T>A
ENST00000567836.2:n.502T>A
NM_001114331.2:c.2189T>A	NP_001107803.1:p.Leu730His
NM_001287.5:c.2261T>A	NP_001278.1:p.Leu754His
XM_011522354.1:c.2087T>A	XP_011520656.1:p.Leu696His
NM_001287.6:c.2261T>A MANE Select	NP_001278.1:p.Leu754His
NM_001114331.3:c.2189T>A	NP_001107803.1:p.Leu730His