Canonical Allele Identifier: CA4536816

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 359091
• ClinVar RCV Id: RCV000361953 ; RCV000442751 ; RCV000711240 ; RCV001257057 ; RCV004530446
• dbSNP Id: rs146160029
• ExAC: 7:143013391 A / C
• gnomAD v2: 7-143013391-A-C
• gnomAD v3: 7-143316298-A-C
• gnomAD v4: 7-143316298-A-C
• MyVariant Identifiers: chr7:g.143013391A>C (hg19) ; chr7:g.143316298A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143316298A>C , CM000669.2:g.143316298A>C	GRCh38
NC_000007.13:g.143013391A>C , CM000669.1:g.143013391A>C	GRCh37
NC_000007.12:g.142723513A>C	NCBI36
NG_009815.1:g.5173A>C
NG_009815.2:g.5173A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.86A>C	ENSP00000498052.2:p.His29Pro
ENST00000343257.7:c.86A>C MANE Select	ENSP00000339867.2:p.His29Pro
ENST00000650516.1:c.86A>C	ENSP00000498052.1:p.His29Pro
ENST00000343257.6:c.86A>C	ENSP00000339867.2:p.His29Pro
NM_000083.2:c.86A>C	NP_000074.2:p.His29Pro
NR_046453.1:n.173A>C
XM_011515781.1:c.86A>C	XP_011514083.1:p.His29Pro
NM_000083.3:c.86A>C MANE Select	NP_000074.3:p.His29Pro
NR_046453.2:n.188A>C