Canonical Allele Identifier: CA394187033

Gene: CLCN7

Linked Data

• dbSNP Id: rs1438074380
• gnomAD v2: 16-1499280-G-C
• MyVariant Identifiers: chr16:g.1499280G>C (hg19) ; chr16:g.1449279G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1449279G>C , CM000678.2:g.1449279G>C	GRCh38
NC_000016.9:g.1499280G>C , CM000678.1:g.1499280G>C	GRCh37
NC_000016.8:g.1439281G>C	NCBI36
NG_007567.1:g.30806C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.1666C>G	ENSP00000514703.1:p.Leu556Val
ENST00000699948.1:c.1624-186C>G	ENSP00000514704.1:n.1624-186C>G
ENST00000382745.9:c.1666C>G MANE Select	ENSP00000372193.4:p.Leu556Val
ENST00000262318.12:c.1594C>G	ENSP00000262318.8:p.Leu532Val
ENST00000382745.8:c.1666C>G	ENSP00000372193.4:p.Leu556Val
ENST00000448525.5:c.1594C>G	ENSP00000410907.1:p.Leu532Val
ENST00000563642.6:n.1735C>G
ENST00000565092.6:n.519C>G
NM_001114331.2:c.1594C>G	NP_001107803.1:p.Leu532Val
NM_001287.5:c.1666C>G	NP_001278.1:p.Leu556Val
XM_011522354.1:c.1492C>G	XP_011520656.1:p.Leu498Val
NM_001287.6:c.1666C>G MANE Select	NP_001278.1:p.Leu556Val
NM_001114331.3:c.1594C>G	NP_001107803.1:p.Leu532Val