Canonical Allele Identifier: CA394185799

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 1353517
• ClinVar RCV Id: RCV001873883
• dbSNP Id: rs1222925593
• gnomAD v2: 16-1497557-G-A
• gnomAD v4: 16-1447556-G-A
• MyVariant Identifiers: chr16:g.1497557G>A (hg19) ; chr16:g.1447556G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447556G>A , CM000678.2:g.1447556G>A	GRCh38
NC_000016.9:g.1497557G>A , CM000678.1:g.1497557G>A	GRCh37
NC_000016.8:g.1437558G>A	NCBI36
NG_007567.1:g.32529C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2086C>T	ENSP00000514703.1:p.Arg696Trp
ENST00000699948.1:c.*399C>T	ENSP00000514704.1:n.*399C>T
ENST00000382745.9:c.2086C>T MANE Select	ENSP00000372193.4:p.Arg696Trp
ENST00000262318.12:c.2014C>T	ENSP00000262318.8:p.Arg672Trp
ENST00000382745.8:c.2086C>T	ENSP00000372193.4:p.Arg696Trp
ENST00000448525.5:c.2014C>T	ENSP00000410907.1:p.Arg672Trp
ENST00000563642.6:n.2155C>T
ENST00000565092.6:n.1121C>T
ENST00000567836.2:n.327C>T
NM_001114331.2:c.2014C>T	NP_001107803.1:p.Arg672Trp
NM_001287.5:c.2086C>T	NP_001278.1:p.Arg696Trp
XM_011522354.1:c.1912C>T	XP_011520656.1:p.Arg638Trp
NM_001287.6:c.2086C>T MANE Select	NP_001278.1:p.Arg696Trp
NM_001114331.3:c.2014C>T	NP_001107803.1:p.Arg672Trp