Canonical Allele Identifier: CA394185695

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1447503-G-T
• MyVariant Identifiers: chr16:g.1497504G>T (hg19) ; chr16:g.1447503G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447503G>T , CM000678.2:g.1447503G>T	GRCh38
NC_000016.9:g.1497504G>T , CM000678.1:g.1497504G>T	GRCh37
NC_000016.8:g.1437505G>T	NCBI36
NG_007567.1:g.32582C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699947.1:c.2139C>A	ENSP00000514703.1:p.Asp713Glu
ENST00000699948.1:c.*452C>A	ENSP00000514704.1:n.*452C>A
ENST00000382745.9:c.2139C>A MANE Select	ENSP00000372193.4:p.Asp713Glu
ENST00000262318.12:c.2067C>A	ENSP00000262318.8:p.Asp689Glu
ENST00000382745.8:c.2139C>A	ENSP00000372193.4:p.Asp713Glu
ENST00000448525.5:c.2067C>A	ENSP00000410907.1:p.Asp689Glu
ENST00000563642.6:n.2208C>A
ENST00000565092.6:n.1174C>A
ENST00000567836.2:n.380C>A
NM_001114331.2:c.2067C>A	NP_001107803.1:p.Asp689Glu
NM_001287.5:c.2139C>A	NP_001278.1:p.Asp713Glu
XM_011522354.1:c.1965C>A	XP_011520656.1:p.Asp655Glu
NM_001287.6:c.2139C>A MANE Select	NP_001278.1:p.Asp713Glu
NM_001114331.3:c.2067C>A	NP_001107803.1:p.Asp689Glu