Canonical Allele Identifier: CA253987

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 6863
• ClinVar RCV Id: RCV000007266 ; RCV000055846 ; RCV001851716
• dbSNP Id: rs121434435
• gnomAD v4: 16-1447038-G-A
• MyVariant Identifiers: chr16:g.1497039G>A (hg19) ; chr16:g.1447038G>A (hg38)
• PubMed: PMID:11741829 ; PMID:20301306

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447038G>A , CM000678.2:g.1447038G>A	GRCh38
NC_000016.9:g.1497039G>A , CM000678.1:g.1497039G>A	GRCh37
NC_000016.8:g.1437040G>A	NCBI36
NG_007567.1:g.33047C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2299C>T	ENSP00000514703.1:p.Arg767Trp
ENST00000699948.1:c.*612C>T	ENSP00000514704.1:n.*612C>T
ENST00000382745.9:c.2299C>T MANE Select	ENSP00000372193.4:p.Arg767Trp
ENST00000262318.12:c.2228C>T	ENSP00000262318.8:p.Ala743Val
ENST00000382745.8:c.2299C>T	ENSP00000372193.4:p.Arg767Trp
ENST00000448525.5:c.2227C>T	ENSP00000410907.1:p.Arg743Trp
ENST00000563642.6:n.2368C>T
ENST00000565092.6:n.1334C>T
ENST00000567836.2:n.540C>T
NM_001114331.2:c.2227C>T	NP_001107803.1:p.Arg743Trp
NM_001287.5:c.2299C>T	NP_001278.1:p.Arg767Trp
XM_011522354.1:c.2125C>T	XP_011520656.1:p.Arg709Trp
NM_001287.6:c.2299C>T MANE Select	NP_001278.1:p.Arg767Trp
NM_001114331.3:c.2227C>T	NP_001107803.1:p.Arg743Trp