Canonical Allele Identifier: CA10653974

Gene: CLCN5

Linked Data

• ClinVar Variation Id: 368517
• ClinVar RCV Id: RCV000368809
• dbSNP Id: rs56657044
• gnomAD v2: X-49860528-T-C
• gnomAD v3: X-50095871-T-C
• gnomAD v4: X-50095871-T-C
• MyVariant Identifiers: chrX:g.49860528T>C (hg19) ; chrX:g.50095871T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50095871T>C , CM000685.2:g.50095871T>C	GRCh38
NC_000023.10:g.49860528T>C , CM000685.1:g.49860528T>C	GRCh37
NC_000023.9:g.49747268T>C	NCBI36
NG_007159.3:g.178256T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376091.8:c.*3652T>C MANE Select	ENSP00000365259.3:n.*3652T>C
ENST00000376088.7:c.*3652T>C	ENSP00000365256.3:n.*3652T>C
NM_000084.4:c.*3652T>C	NP_000075.1:n.*3652T>C
NM_001127898.3:c.*3652T>C	NP_001121370.1:n.*3652T>C
NM_001127899.3:c.*3652T>C	NP_001121371.1:n.*3652T>C
NM_001282163.1:c.*3652T>C	NP_001269092.1:n.*3652T>C
XM_011543888.1:c.*3652T>C	XP_011542190.1:n.*3652T>C
XM_011543889.1:c.*3652T>C	XP_011542191.1:n.*3652T>C
XM_017029257.1:c.*3652T>C	XP_016884746.1:n.*3652T>C
XM_017029258.1:c.*3652T>C	XP_016884747.1:n.*3652T>C
NM_001127898.4:c.*3652T>C MANE Select	NP_001121370.1:n.*3652T>C
NM_000084.5:c.*3652T>C	NP_000075.1:n.*3652T>C
NM_001127899.4:c.*3652T>C	NP_001121371.1:n.*3652T>C
NM_001282163.2:c.*3652T>C	NP_001269092.1:n.*3652T>C