Canonical Allele Identifier: CA10413846

Gene: CLCN5

Linked Data

• ClinVar Variation Id: 368478
• ClinVar RCV Id: RCV000266173 ; RCV001510626
• dbSNP Id: rs34122840
• ExAC: X:49851173 G / C
• gnomAD v2: X-49851173-G-C
• gnomAD v3: X-50086516-G-C
• gnomAD v4: X-50086516-G-C
• MyVariant Identifiers: chrX:g.49851173G>C (hg19) ; chrX:g.50086516G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50086516G>C , CM000685.2:g.50086516G>C	GRCh38
NC_000023.10:g.49851173G>C , CM000685.1:g.49851173G>C	GRCh37
NC_000023.9:g.49737913G>C	NCBI36
NG_007159.3:g.168901G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.1203G>C MANE Select	ENSP00000365259.3:p.Leu401=
ENST00000642383.1:c.453G>C	ENSP00000496353.1:p.Leu151=
ENST00000642885.1:c.993G>C	ENSP00000496632.1:p.Leu331=
ENST00000643129.1:c.1490G>C
ENST00000646398.1:c.*378G>C	ENSP00000495122.1:n.*378G>C
ENST00000307367.2:c.993G>C	ENSP00000304257.2:p.Leu331=
ENST00000376088.7:c.1203G>C	ENSP00000365256.3:p.Leu401=
ENST00000376091.7:c.1203G>C	ENSP00000365259.3:p.Leu401=
ENST00000376108.7:c.993G>C	ENSP00000365276.3:p.Leu331=
NM_000084.4:c.993G>C	NP_000075.1:p.Leu331=
NM_001127898.3:c.1203G>C	NP_001121370.1:p.Leu401=
NM_001127899.3:c.1203G>C	NP_001121371.1:p.Leu401=
NM_001282163.1:c.1053G>C	NP_001269092.1:p.Leu351=
XM_011543888.1:c.1203G>C	XP_011542190.1:p.Leu401=
XM_011543889.1:c.993G>C	XP_011542191.1:p.Leu331=
XM_017029257.1:c.1215G>C	XP_016884746.1:p.Leu405=
XM_017029258.1:c.1215G>C	XP_016884747.1:p.Leu405=
NM_001127898.4:c.1203G>C MANE Select	NP_001121370.1:p.Leu401=
NM_000084.5:c.993G>C	NP_000075.1:p.Leu331=
NM_001127899.4:c.1203G>C	NP_001121371.1:p.Leu401=
NM_001282163.2:c.1053G>C	NP_001269092.1:p.Leu351=