Canonical Allele Identifier: CA492916566

Gene: CLCN7

Linked Data

• ClinVar Variation Id: 2117544
• ClinVar RCV Id: RCV003039252
• dbSNP Id: rs1381739391
• gnomAD v2: 16-1497402-C-T
• gnomAD v4: 16-1447401-C-T
• MyVariant Identifiers: chr16:g.1497402C>T (hg19) ; chr16:g.1447401C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447401C>T , CM000678.2:g.1447401C>T	GRCh38
NC_000016.9:g.1497402C>T , CM000678.1:g.1497402C>T	GRCh37
NC_000016.8:g.1437403C>T	NCBI36
NG_007567.1:g.32684G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2241G>A	ENSP00000514703.1:p.Thr747=
ENST00000699948.1:c.*554G>A	ENSP00000514704.1:n.*554G>A
ENST00000382745.9:c.2241G>A MANE Select	ENSP00000372193.4:p.Thr747=
ENST00000262318.12:c.2169G>A	ENSP00000262318.8:p.Thr723=
ENST00000382745.8:c.2241G>A	ENSP00000372193.4:p.Thr747=
ENST00000448525.5:c.2169G>A	ENSP00000410907.1:p.Thr723=
ENST00000563642.6:n.2310G>A
ENST00000565092.6:n.1276G>A
ENST00000567836.2:n.482G>A
NM_001114331.2:c.2169G>A	NP_001107803.1:p.Thr723=
NM_001287.5:c.2241G>A	NP_001278.1:p.Thr747=
XM_011522354.1:c.2067G>A	XP_011520656.1:p.Thr689=
NM_001287.6:c.2241G>A MANE Select	NP_001278.1:p.Thr747=
NM_001114331.3:c.2169G>A	NP_001107803.1:p.Thr723=