Canonical Allele Identifier: CA394187023

Gene: CLCN7

Linked Data

• dbSNP Id: rs1328785025
• gnomAD v2: 16-1499277-C-A
• gnomAD v3: 16-1449276-C-A
• gnomAD v4: 16-1449276-C-A
• MyVariant Identifiers: chr16:g.1499277C>A (hg19) ; chr16:g.1449276C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1449276C>A , CM000678.2:g.1449276C>A	GRCh38
NC_000016.9:g.1499277C>A , CM000678.1:g.1499277C>A	GRCh37
NC_000016.8:g.1439278C>A	NCBI36
NG_007567.1:g.30809G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.1669G>T	ENSP00000514703.1:p.Gly557Cys
ENST00000699948.1:c.1624-183G>T	ENSP00000514704.1:n.1624-183G>T
ENST00000382745.9:c.1669G>T MANE Select	ENSP00000372193.4:p.Gly557Cys
ENST00000262318.12:c.1597G>T	ENSP00000262318.8:p.Gly533Cys
ENST00000382745.8:c.1669G>T	ENSP00000372193.4:p.Gly557Cys
ENST00000448525.5:c.1597G>T	ENSP00000410907.1:p.Gly533Cys
ENST00000563642.6:n.1738G>T
ENST00000565092.6:n.522G>T
NM_001114331.2:c.1597G>T	NP_001107803.1:p.Gly533Cys
NM_001287.5:c.1669G>T	NP_001278.1:p.Gly557Cys
XM_011522354.1:c.1495G>T	XP_011520656.1:p.Gly499Cys
NM_001287.6:c.1669G>T MANE Select	NP_001278.1:p.Gly557Cys
NM_001114331.3:c.1597G>T	NP_001107803.1:p.Gly533Cys