Canonical Allele Identifier: CA10654348

Gene: CLCN5

Linked Data

• ClinVar Variation Id: 368472
• ClinVar RCV Id: RCV000392639
• dbSNP Id: rs781792158
• gnomAD v2: X-49832285-C-T
• gnomAD v3: X-50067630-C-T
• gnomAD v4: X-50067630-C-T
• MyVariant Identifiers: chrX:g.49832285C>T (hg19) ; chrX:g.50067630C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50067630C>T , CM000685.2:g.50067630C>T	GRCh38
NC_000023.10:g.49832285C>T , CM000685.1:g.49832285C>T	GRCh37
NC_000023.9:g.49719025C>T	NCBI36
NG_007159.3:g.150015C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.164-2249C>T MANE Select	ENSP00000365259.3:n.164-2249C>T
ENST00000643129.1:c.451-2249C>T
ENST00000376088.7:c.164-2249C>T	ENSP00000365256.3:n.164-2249C>T
ENST00000376091.7:c.164-2249C>T	ENSP00000365259.3:n.164-2249C>T
ENST00000376108.7:c.-178C>T	ENSP00000365276.3:n.-178C>T
NM_000084.4:c.-178C>T	NP_000075.1:n.-178C>T
NM_001127898.3:c.164-2249C>T	NP_001121370.1:n.164-2249C>T
NM_001127899.3:c.164-2249C>T	NP_001121371.1:n.164-2249C>T
XM_011543888.1:c.164-2249C>T	XP_011542190.1:n.164-2249C>T
XM_011543889.1:c.-178C>T	XP_011542191.1:n.-178C>T
XM_017029257.1:c.176-2249C>T	XP_016884746.1:n.176-2249C>T
XM_017029258.1:c.176-2249C>T	XP_016884747.1:n.176-2249C>T
NM_001127898.4:c.164-2249C>T MANE Select	NP_001121370.1:n.164-2249C>T
NM_000084.5:c.-178C>T	NP_000075.1:n.-178C>T
NM_001127899.4:c.164-2249C>T	NP_001121371.1:n.164-2249C>T